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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs55787866

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:126448280-126448301 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
del(A)10 / del(A)8 / del(A)7 / del…

del(A)10 / del(A)8 / del(A)7 / del(A)6 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)5 / dup(A)6 / dup(A)7 / dup(A)8 / dup(A)9 / dup(A)10 / dup(A)11 / dup(A)12 / dup(A)13 / dup(A)14 / dup(A)15 / dup(A)16 / dup(A)17 / dup(A)18 / dup(A)19 / dup(A)20 / dup(A)21 / ins(A)24

Variation Type
Indel Insertion and Deletion
Frequency
del(A)10=0.0000 (0/2380, ALFA)
del(A)8=0.0000 (0/2380, ALFA)
del(A)7=0.0000 (0/2380, ALFA) (+ 8 more)
del(A)6=0.0000 (0/2380, ALFA)
del(A)5=0.0000 (0/2380, ALFA)
del(A)4=0.0000 (0/2380, ALFA)
delAAA=0.0000 (0/2380, ALFA)
delAA=0.0000 (0/2380, ALFA)
delA=0.0000 (0/2380, ALFA)
dupA=0.0000 (0/2380, ALFA)
dupAA=0.0000 (0/2380, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
KIRREL3 : Intron Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 2380 AAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 1870 AAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 302 AAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 12 AAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 290 AAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 10 AAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
East Asian Sub 6 AAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 4 AAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 28 AAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 74 AAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
South Asian Sub 16 AAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 80 AAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 2380 (A)22=1.0000 del(A)10=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator European Sub 1870 (A)22=1.0000 del(A)10=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator African Sub 302 (A)22=1.000 del(A)10=0.000, del(A)8=0.000, del(A)7=0.000, del(A)6=0.000, del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator Other Sub 80 (A)22=1.00 del(A)10=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator Latin American 2 Sub 74 (A)22=1.00 del(A)10=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator Latin American 1 Sub 28 (A)22=1.00 del(A)10=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator South Asian Sub 16 (A)22=1.00 del(A)10=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator Asian Sub 10 (A)22=1.0 del(A)10=0.0, del(A)8=0.0, del(A)7=0.0, del(A)6=0.0, del(A)5=0.0, del(A)4=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 11 NC_000011.10:g.126448292_126448301del
GRCh38.p14 chr 11 NC_000011.10:g.126448294_126448301del
GRCh38.p14 chr 11 NC_000011.10:g.126448295_126448301del
GRCh38.p14 chr 11 NC_000011.10:g.126448296_126448301del
GRCh38.p14 chr 11 NC_000011.10:g.126448297_126448301del
GRCh38.p14 chr 11 NC_000011.10:g.126448298_126448301del
GRCh38.p14 chr 11 NC_000011.10:g.126448299_126448301del
GRCh38.p14 chr 11 NC_000011.10:g.126448300_126448301del
GRCh38.p14 chr 11 NC_000011.10:g.126448301del
GRCh38.p14 chr 11 NC_000011.10:g.126448301dup
GRCh38.p14 chr 11 NC_000011.10:g.126448300_126448301dup
GRCh38.p14 chr 11 NC_000011.10:g.126448299_126448301dup
GRCh38.p14 chr 11 NC_000011.10:g.126448298_126448301dup
GRCh38.p14 chr 11 NC_000011.10:g.126448297_126448301dup
GRCh38.p14 chr 11 NC_000011.10:g.126448296_126448301dup
GRCh38.p14 chr 11 NC_000011.10:g.126448295_126448301dup
GRCh38.p14 chr 11 NC_000011.10:g.126448294_126448301dup
GRCh38.p14 chr 11 NC_000011.10:g.126448293_126448301dup
GRCh38.p14 chr 11 NC_000011.10:g.126448292_126448301dup
GRCh38.p14 chr 11 NC_000011.10:g.126448291_126448301dup
GRCh38.p14 chr 11 NC_000011.10:g.126448290_126448301dup
GRCh38.p14 chr 11 NC_000011.10:g.126448289_126448301dup
GRCh38.p14 chr 11 NC_000011.10:g.126448288_126448301dup
GRCh38.p14 chr 11 NC_000011.10:g.126448287_126448301dup
GRCh38.p14 chr 11 NC_000011.10:g.126448286_126448301dup
GRCh38.p14 chr 11 NC_000011.10:g.126448285_126448301dup
GRCh38.p14 chr 11 NC_000011.10:g.126448284_126448301dup
GRCh38.p14 chr 11 NC_000011.10:g.126448283_126448301dup
GRCh38.p14 chr 11 NC_000011.10:g.126448282_126448301dup
GRCh38.p14 chr 11 NC_000011.10:g.126448281_126448301dup
GRCh38.p14 chr 11 NC_000011.10:g.126448301_126448302insAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 11 NC_000011.9:g.126318187_126318196del
GRCh37.p13 chr 11 NC_000011.9:g.126318189_126318196del
GRCh37.p13 chr 11 NC_000011.9:g.126318190_126318196del
GRCh37.p13 chr 11 NC_000011.9:g.126318191_126318196del
GRCh37.p13 chr 11 NC_000011.9:g.126318192_126318196del
GRCh37.p13 chr 11 NC_000011.9:g.126318193_126318196del
GRCh37.p13 chr 11 NC_000011.9:g.126318194_126318196del
GRCh37.p13 chr 11 NC_000011.9:g.126318195_126318196del
GRCh37.p13 chr 11 NC_000011.9:g.126318196del
GRCh37.p13 chr 11 NC_000011.9:g.126318196dup
GRCh37.p13 chr 11 NC_000011.9:g.126318195_126318196dup
GRCh37.p13 chr 11 NC_000011.9:g.126318194_126318196dup
GRCh37.p13 chr 11 NC_000011.9:g.126318193_126318196dup
GRCh37.p13 chr 11 NC_000011.9:g.126318192_126318196dup
GRCh37.p13 chr 11 NC_000011.9:g.126318191_126318196dup
GRCh37.p13 chr 11 NC_000011.9:g.126318190_126318196dup
GRCh37.p13 chr 11 NC_000011.9:g.126318189_126318196dup
GRCh37.p13 chr 11 NC_000011.9:g.126318188_126318196dup
GRCh37.p13 chr 11 NC_000011.9:g.126318187_126318196dup
GRCh37.p13 chr 11 NC_000011.9:g.126318186_126318196dup
GRCh37.p13 chr 11 NC_000011.9:g.126318185_126318196dup
GRCh37.p13 chr 11 NC_000011.9:g.126318184_126318196dup
GRCh37.p13 chr 11 NC_000011.9:g.126318183_126318196dup
GRCh37.p13 chr 11 NC_000011.9:g.126318182_126318196dup
GRCh37.p13 chr 11 NC_000011.9:g.126318181_126318196dup
GRCh37.p13 chr 11 NC_000011.9:g.126318180_126318196dup
GRCh37.p13 chr 11 NC_000011.9:g.126318179_126318196dup
GRCh37.p13 chr 11 NC_000011.9:g.126318178_126318196dup
GRCh37.p13 chr 11 NC_000011.9:g.126318177_126318196dup
GRCh37.p13 chr 11 NC_000011.9:g.126318176_126318196dup
GRCh37.p13 chr 11 NC_000011.9:g.126318196_126318197insAAAAAAAAAAAAAAAAAAAAAAAA
KIRREL3 RefSeqGene NG_012971.2:g.557581_557590del
KIRREL3 RefSeqGene NG_012971.2:g.557583_557590del
KIRREL3 RefSeqGene NG_012971.2:g.557584_557590del
KIRREL3 RefSeqGene NG_012971.2:g.557585_557590del
KIRREL3 RefSeqGene NG_012971.2:g.557586_557590del
KIRREL3 RefSeqGene NG_012971.2:g.557587_557590del
KIRREL3 RefSeqGene NG_012971.2:g.557588_557590del
KIRREL3 RefSeqGene NG_012971.2:g.557589_557590del
KIRREL3 RefSeqGene NG_012971.2:g.557590del
KIRREL3 RefSeqGene NG_012971.2:g.557590dup
KIRREL3 RefSeqGene NG_012971.2:g.557589_557590dup
KIRREL3 RefSeqGene NG_012971.2:g.557588_557590dup
KIRREL3 RefSeqGene NG_012971.2:g.557587_557590dup
KIRREL3 RefSeqGene NG_012971.2:g.557586_557590dup
KIRREL3 RefSeqGene NG_012971.2:g.557585_557590dup
KIRREL3 RefSeqGene NG_012971.2:g.557584_557590dup
KIRREL3 RefSeqGene NG_012971.2:g.557583_557590dup
KIRREL3 RefSeqGene NG_012971.2:g.557582_557590dup
KIRREL3 RefSeqGene NG_012971.2:g.557581_557590dup
KIRREL3 RefSeqGene NG_012971.2:g.557580_557590dup
KIRREL3 RefSeqGene NG_012971.2:g.557579_557590dup
KIRREL3 RefSeqGene NG_012971.2:g.557578_557590dup
KIRREL3 RefSeqGene NG_012971.2:g.557577_557590dup
KIRREL3 RefSeqGene NG_012971.2:g.557576_557590dup
KIRREL3 RefSeqGene NG_012971.2:g.557575_557590dup
KIRREL3 RefSeqGene NG_012971.2:g.557574_557590dup
KIRREL3 RefSeqGene NG_012971.2:g.557573_557590dup
KIRREL3 RefSeqGene NG_012971.2:g.557572_557590dup
KIRREL3 RefSeqGene NG_012971.2:g.557571_557590dup
KIRREL3 RefSeqGene NG_012971.2:g.557570_557590dup
KIRREL3 RefSeqGene NG_012971.2:g.557590_557591insTTTTTTTTTTTTTTTTTTTTTTTT
KIRREL3 RefSeqGene NG_012971.1:g.557583_557592del
KIRREL3 RefSeqGene NG_012971.1:g.557585_557592del
KIRREL3 RefSeqGene NG_012971.1:g.557586_557592del
KIRREL3 RefSeqGene NG_012971.1:g.557587_557592del
KIRREL3 RefSeqGene NG_012971.1:g.557588_557592del
KIRREL3 RefSeqGene NG_012971.1:g.557589_557592del
KIRREL3 RefSeqGene NG_012971.1:g.557590_557592del
KIRREL3 RefSeqGene NG_012971.1:g.557591_557592del
KIRREL3 RefSeqGene NG_012971.1:g.557592del
KIRREL3 RefSeqGene NG_012971.1:g.557592dup
KIRREL3 RefSeqGene NG_012971.1:g.557591_557592dup
KIRREL3 RefSeqGene NG_012971.1:g.557590_557592dup
KIRREL3 RefSeqGene NG_012971.1:g.557589_557592dup
KIRREL3 RefSeqGene NG_012971.1:g.557588_557592dup
KIRREL3 RefSeqGene NG_012971.1:g.557587_557592dup
KIRREL3 RefSeqGene NG_012971.1:g.557586_557592dup
KIRREL3 RefSeqGene NG_012971.1:g.557585_557592dup
KIRREL3 RefSeqGene NG_012971.1:g.557584_557592dup
KIRREL3 RefSeqGene NG_012971.1:g.557583_557592dup
KIRREL3 RefSeqGene NG_012971.1:g.557582_557592dup
KIRREL3 RefSeqGene NG_012971.1:g.557581_557592dup
KIRREL3 RefSeqGene NG_012971.1:g.557580_557592dup
KIRREL3 RefSeqGene NG_012971.1:g.557579_557592dup
KIRREL3 RefSeqGene NG_012971.1:g.557578_557592dup
KIRREL3 RefSeqGene NG_012971.1:g.557577_557592dup
KIRREL3 RefSeqGene NG_012971.1:g.557576_557592dup
KIRREL3 RefSeqGene NG_012971.1:g.557575_557592dup
KIRREL3 RefSeqGene NG_012971.1:g.557574_557592dup
KIRREL3 RefSeqGene NG_012971.1:g.557573_557592dup
KIRREL3 RefSeqGene NG_012971.1:g.557572_557592dup
KIRREL3 RefSeqGene NG_012971.1:g.557592_557593insTTTTTTTTTTTTTTTTTTTTTTTT
ST3GAL4 RefSeqGene NG_053025.1:g.97648_97657del
ST3GAL4 RefSeqGene NG_053025.1:g.97650_97657del
ST3GAL4 RefSeqGene NG_053025.1:g.97651_97657del
ST3GAL4 RefSeqGene NG_053025.1:g.97652_97657del
ST3GAL4 RefSeqGene NG_053025.1:g.97653_97657del
ST3GAL4 RefSeqGene NG_053025.1:g.97654_97657del
ST3GAL4 RefSeqGene NG_053025.1:g.97655_97657del
ST3GAL4 RefSeqGene NG_053025.1:g.97656_97657del
ST3GAL4 RefSeqGene NG_053025.1:g.97657del
ST3GAL4 RefSeqGene NG_053025.1:g.97657dup
ST3GAL4 RefSeqGene NG_053025.1:g.97656_97657dup
ST3GAL4 RefSeqGene NG_053025.1:g.97655_97657dup
ST3GAL4 RefSeqGene NG_053025.1:g.97654_97657dup
ST3GAL4 RefSeqGene NG_053025.1:g.97653_97657dup
ST3GAL4 RefSeqGene NG_053025.1:g.97652_97657dup
ST3GAL4 RefSeqGene NG_053025.1:g.97651_97657dup
ST3GAL4 RefSeqGene NG_053025.1:g.97650_97657dup
ST3GAL4 RefSeqGene NG_053025.1:g.97649_97657dup
ST3GAL4 RefSeqGene NG_053025.1:g.97648_97657dup
ST3GAL4 RefSeqGene NG_053025.1:g.97647_97657dup
ST3GAL4 RefSeqGene NG_053025.1:g.97646_97657dup
ST3GAL4 RefSeqGene NG_053025.1:g.97645_97657dup
ST3GAL4 RefSeqGene NG_053025.1:g.97644_97657dup
ST3GAL4 RefSeqGene NG_053025.1:g.97643_97657dup
ST3GAL4 RefSeqGene NG_053025.1:g.97642_97657dup
ST3GAL4 RefSeqGene NG_053025.1:g.97641_97657dup
ST3GAL4 RefSeqGene NG_053025.1:g.97640_97657dup
ST3GAL4 RefSeqGene NG_053025.1:g.97639_97657dup
ST3GAL4 RefSeqGene NG_053025.1:g.97638_97657dup
ST3GAL4 RefSeqGene NG_053025.1:g.97637_97657dup
ST3GAL4 RefSeqGene NG_053025.1:g.97657_97658insAAAAAAAAAAAAAAAAAAAAAAAA
Gene: KIRREL3, kirre like nephrin family adhesion molecule 3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
KIRREL3 transcript variant 2 NM_001161707.1:c.997+720_…

NM_001161707.1:c.997+720_997+729del

N/A Intron Variant
KIRREL3 transcript variant 3 NM_001301097.1:c.997+720_…

NM_001301097.1:c.997+720_997+729del

N/A Intron Variant
KIRREL3 transcript variant 1 NM_032531.4:c.997+720_997…

NM_032531.4:c.997+720_997+729del

N/A Intron Variant
KIRREL3 transcript variant X1 XM_011543026.3:c.1015+720…

XM_011543026.3:c.1015+720_1015+729del

N/A Intron Variant
KIRREL3 transcript variant X5 XM_011543027.3:c.997+720_…

XM_011543027.3:c.997+720_997+729del

N/A Intron Variant
KIRREL3 transcript variant X2 XM_011543030.4:c.1015+720…

XM_011543030.4:c.1015+720_1015+729del

N/A Intron Variant
KIRREL3 transcript variant X3 XM_011543032.4:c.1015+720…

XM_011543032.4:c.1015+720_1015+729del

N/A Intron Variant
KIRREL3 transcript variant X6 XM_017018419.2:c.997+720_…

XM_017018419.2:c.997+720_997+729del

N/A Intron Variant
KIRREL3 transcript variant X4 XM_047427715.1:c.430+720_…

XM_047427715.1:c.430+720_430+729del

N/A Intron Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement (A)22= del(A)10 del(A)8 del(A)7 del(A)6 del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)5 dup(A)6 dup(A)7 dup(A)8 dup(A)9 dup(A)10 dup(A)11 dup(A)12 dup(A)13 dup(A)14 dup(A)15 dup(A)16 dup(A)17 dup(A)18 dup(A)19 dup(A)20 dup(A)21 ins(A)24
GRCh38.p14 chr 11 NC_000011.10:g.126448280_126448301= NC_000011.10:g.126448292_126448301del NC_000011.10:g.126448294_126448301del NC_000011.10:g.126448295_126448301del NC_000011.10:g.126448296_126448301del NC_000011.10:g.126448297_126448301del NC_000011.10:g.126448298_126448301del NC_000011.10:g.126448299_126448301del NC_000011.10:g.126448300_126448301del NC_000011.10:g.126448301del NC_000011.10:g.126448301dup NC_000011.10:g.126448300_126448301dup NC_000011.10:g.126448299_126448301dup NC_000011.10:g.126448298_126448301dup NC_000011.10:g.126448297_126448301dup NC_000011.10:g.126448296_126448301dup NC_000011.10:g.126448295_126448301dup NC_000011.10:g.126448294_126448301dup NC_000011.10:g.126448293_126448301dup NC_000011.10:g.126448292_126448301dup NC_000011.10:g.126448291_126448301dup NC_000011.10:g.126448290_126448301dup NC_000011.10:g.126448289_126448301dup NC_000011.10:g.126448288_126448301dup NC_000011.10:g.126448287_126448301dup NC_000011.10:g.126448286_126448301dup NC_000011.10:g.126448285_126448301dup NC_000011.10:g.126448284_126448301dup NC_000011.10:g.126448283_126448301dup NC_000011.10:g.126448282_126448301dup NC_000011.10:g.126448281_126448301dup NC_000011.10:g.126448301_126448302insAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 11 NC_000011.9:g.126318175_126318196= NC_000011.9:g.126318187_126318196del NC_000011.9:g.126318189_126318196del NC_000011.9:g.126318190_126318196del NC_000011.9:g.126318191_126318196del NC_000011.9:g.126318192_126318196del NC_000011.9:g.126318193_126318196del NC_000011.9:g.126318194_126318196del NC_000011.9:g.126318195_126318196del NC_000011.9:g.126318196del NC_000011.9:g.126318196dup NC_000011.9:g.126318195_126318196dup NC_000011.9:g.126318194_126318196dup NC_000011.9:g.126318193_126318196dup NC_000011.9:g.126318192_126318196dup NC_000011.9:g.126318191_126318196dup NC_000011.9:g.126318190_126318196dup NC_000011.9:g.126318189_126318196dup NC_000011.9:g.126318188_126318196dup NC_000011.9:g.126318187_126318196dup NC_000011.9:g.126318186_126318196dup NC_000011.9:g.126318185_126318196dup NC_000011.9:g.126318184_126318196dup NC_000011.9:g.126318183_126318196dup NC_000011.9:g.126318182_126318196dup NC_000011.9:g.126318181_126318196dup NC_000011.9:g.126318180_126318196dup NC_000011.9:g.126318179_126318196dup NC_000011.9:g.126318178_126318196dup NC_000011.9:g.126318177_126318196dup NC_000011.9:g.126318176_126318196dup NC_000011.9:g.126318196_126318197insAAAAAAAAAAAAAAAAAAAAAAAA
KIRREL3 RefSeqGene NG_012971.2:g.557569_557590= NG_012971.2:g.557581_557590del NG_012971.2:g.557583_557590del NG_012971.2:g.557584_557590del NG_012971.2:g.557585_557590del NG_012971.2:g.557586_557590del NG_012971.2:g.557587_557590del NG_012971.2:g.557588_557590del NG_012971.2:g.557589_557590del NG_012971.2:g.557590del NG_012971.2:g.557590dup NG_012971.2:g.557589_557590dup NG_012971.2:g.557588_557590dup NG_012971.2:g.557587_557590dup NG_012971.2:g.557586_557590dup NG_012971.2:g.557585_557590dup NG_012971.2:g.557584_557590dup NG_012971.2:g.557583_557590dup NG_012971.2:g.557582_557590dup NG_012971.2:g.557581_557590dup NG_012971.2:g.557580_557590dup NG_012971.2:g.557579_557590dup NG_012971.2:g.557578_557590dup NG_012971.2:g.557577_557590dup NG_012971.2:g.557576_557590dup NG_012971.2:g.557575_557590dup NG_012971.2:g.557574_557590dup NG_012971.2:g.557573_557590dup NG_012971.2:g.557572_557590dup NG_012971.2:g.557571_557590dup NG_012971.2:g.557570_557590dup NG_012971.2:g.557590_557591insTTTTTTTTTTTTTTTTTTTTTTTT
KIRREL3 RefSeqGene NG_012971.1:g.557571_557592= NG_012971.1:g.557583_557592del NG_012971.1:g.557585_557592del NG_012971.1:g.557586_557592del NG_012971.1:g.557587_557592del NG_012971.1:g.557588_557592del NG_012971.1:g.557589_557592del NG_012971.1:g.557590_557592del NG_012971.1:g.557591_557592del NG_012971.1:g.557592del NG_012971.1:g.557592dup NG_012971.1:g.557591_557592dup NG_012971.1:g.557590_557592dup NG_012971.1:g.557589_557592dup NG_012971.1:g.557588_557592dup NG_012971.1:g.557587_557592dup NG_012971.1:g.557586_557592dup NG_012971.1:g.557585_557592dup NG_012971.1:g.557584_557592dup NG_012971.1:g.557583_557592dup NG_012971.1:g.557582_557592dup NG_012971.1:g.557581_557592dup NG_012971.1:g.557580_557592dup NG_012971.1:g.557579_557592dup NG_012971.1:g.557578_557592dup NG_012971.1:g.557577_557592dup NG_012971.1:g.557576_557592dup NG_012971.1:g.557575_557592dup NG_012971.1:g.557574_557592dup NG_012971.1:g.557573_557592dup NG_012971.1:g.557572_557592dup NG_012971.1:g.557592_557593insTTTTTTTTTTTTTTTTTTTTTTTT
ST3GAL4 RefSeqGene NG_053025.1:g.97636_97657= NG_053025.1:g.97648_97657del NG_053025.1:g.97650_97657del NG_053025.1:g.97651_97657del NG_053025.1:g.97652_97657del NG_053025.1:g.97653_97657del NG_053025.1:g.97654_97657del NG_053025.1:g.97655_97657del NG_053025.1:g.97656_97657del NG_053025.1:g.97657del NG_053025.1:g.97657dup NG_053025.1:g.97656_97657dup NG_053025.1:g.97655_97657dup NG_053025.1:g.97654_97657dup NG_053025.1:g.97653_97657dup NG_053025.1:g.97652_97657dup NG_053025.1:g.97651_97657dup NG_053025.1:g.97650_97657dup NG_053025.1:g.97649_97657dup NG_053025.1:g.97648_97657dup NG_053025.1:g.97647_97657dup NG_053025.1:g.97646_97657dup NG_053025.1:g.97645_97657dup NG_053025.1:g.97644_97657dup NG_053025.1:g.97643_97657dup NG_053025.1:g.97642_97657dup NG_053025.1:g.97641_97657dup NG_053025.1:g.97640_97657dup NG_053025.1:g.97639_97657dup NG_053025.1:g.97638_97657dup NG_053025.1:g.97637_97657dup NG_053025.1:g.97657_97658insAAAAAAAAAAAAAAAAAAAAAAAA
KIRREL3 transcript variant 2 NM_001161707.1:c.997+729= NM_001161707.1:c.997+720_997+729del NM_001161707.1:c.997+722_997+729del NM_001161707.1:c.997+723_997+729del NM_001161707.1:c.997+724_997+729del NM_001161707.1:c.997+725_997+729del NM_001161707.1:c.997+726_997+729del NM_001161707.1:c.997+727_997+729del NM_001161707.1:c.997+728_997+729del NM_001161707.1:c.997+729del NM_001161707.1:c.997+729dup NM_001161707.1:c.997+728_997+729dup NM_001161707.1:c.997+727_997+729dup NM_001161707.1:c.997+726_997+729dup NM_001161707.1:c.997+725_997+729dup NM_001161707.1:c.997+724_997+729dup NM_001161707.1:c.997+723_997+729dup NM_001161707.1:c.997+722_997+729dup NM_001161707.1:c.997+721_997+729dup NM_001161707.1:c.997+720_997+729dup NM_001161707.1:c.997+719_997+729dup NM_001161707.1:c.997+718_997+729dup NM_001161707.1:c.997+717_997+729dup NM_001161707.1:c.997+716_997+729dup NM_001161707.1:c.997+715_997+729dup NM_001161707.1:c.997+714_997+729dup NM_001161707.1:c.997+713_997+729dup NM_001161707.1:c.997+712_997+729dup NM_001161707.1:c.997+711_997+729dup NM_001161707.1:c.997+710_997+729dup NM_001161707.1:c.997+709_997+729dup NM_001161707.1:c.997+729_997+730insTTTTTTTTTTTTTTTTTTTTTTTT
KIRREL3 transcript variant 3 NM_001301097.1:c.997+729= NM_001301097.1:c.997+720_997+729del NM_001301097.1:c.997+722_997+729del NM_001301097.1:c.997+723_997+729del NM_001301097.1:c.997+724_997+729del NM_001301097.1:c.997+725_997+729del NM_001301097.1:c.997+726_997+729del NM_001301097.1:c.997+727_997+729del NM_001301097.1:c.997+728_997+729del NM_001301097.1:c.997+729del NM_001301097.1:c.997+729dup NM_001301097.1:c.997+728_997+729dup NM_001301097.1:c.997+727_997+729dup NM_001301097.1:c.997+726_997+729dup NM_001301097.1:c.997+725_997+729dup NM_001301097.1:c.997+724_997+729dup NM_001301097.1:c.997+723_997+729dup NM_001301097.1:c.997+722_997+729dup NM_001301097.1:c.997+721_997+729dup NM_001301097.1:c.997+720_997+729dup NM_001301097.1:c.997+719_997+729dup NM_001301097.1:c.997+718_997+729dup NM_001301097.1:c.997+717_997+729dup NM_001301097.1:c.997+716_997+729dup NM_001301097.1:c.997+715_997+729dup NM_001301097.1:c.997+714_997+729dup NM_001301097.1:c.997+713_997+729dup NM_001301097.1:c.997+712_997+729dup NM_001301097.1:c.997+711_997+729dup NM_001301097.1:c.997+710_997+729dup NM_001301097.1:c.997+709_997+729dup NM_001301097.1:c.997+729_997+730insTTTTTTTTTTTTTTTTTTTTTTTT
KIRREL3 transcript variant 1 NM_032531.3:c.997+729= NM_032531.3:c.997+720_997+729del NM_032531.3:c.997+722_997+729del NM_032531.3:c.997+723_997+729del NM_032531.3:c.997+724_997+729del NM_032531.3:c.997+725_997+729del NM_032531.3:c.997+726_997+729del NM_032531.3:c.997+727_997+729del NM_032531.3:c.997+728_997+729del NM_032531.3:c.997+729del NM_032531.3:c.997+729dup NM_032531.3:c.997+728_997+729dup NM_032531.3:c.997+727_997+729dup NM_032531.3:c.997+726_997+729dup NM_032531.3:c.997+725_997+729dup NM_032531.3:c.997+724_997+729dup NM_032531.3:c.997+723_997+729dup NM_032531.3:c.997+722_997+729dup NM_032531.3:c.997+721_997+729dup NM_032531.3:c.997+720_997+729dup NM_032531.3:c.997+719_997+729dup NM_032531.3:c.997+718_997+729dup NM_032531.3:c.997+717_997+729dup NM_032531.3:c.997+716_997+729dup NM_032531.3:c.997+715_997+729dup NM_032531.3:c.997+714_997+729dup NM_032531.3:c.997+713_997+729dup NM_032531.3:c.997+712_997+729dup NM_032531.3:c.997+711_997+729dup NM_032531.3:c.997+710_997+729dup NM_032531.3:c.997+709_997+729dup NM_032531.3:c.997+729_997+730insTTTTTTTTTTTTTTTTTTTTTTTT
KIRREL3 transcript variant 1 NM_032531.4:c.997+729= NM_032531.4:c.997+720_997+729del NM_032531.4:c.997+722_997+729del NM_032531.4:c.997+723_997+729del NM_032531.4:c.997+724_997+729del NM_032531.4:c.997+725_997+729del NM_032531.4:c.997+726_997+729del NM_032531.4:c.997+727_997+729del NM_032531.4:c.997+728_997+729del NM_032531.4:c.997+729del NM_032531.4:c.997+729dup NM_032531.4:c.997+728_997+729dup NM_032531.4:c.997+727_997+729dup NM_032531.4:c.997+726_997+729dup NM_032531.4:c.997+725_997+729dup NM_032531.4:c.997+724_997+729dup NM_032531.4:c.997+723_997+729dup NM_032531.4:c.997+722_997+729dup NM_032531.4:c.997+721_997+729dup NM_032531.4:c.997+720_997+729dup NM_032531.4:c.997+719_997+729dup NM_032531.4:c.997+718_997+729dup NM_032531.4:c.997+717_997+729dup NM_032531.4:c.997+716_997+729dup NM_032531.4:c.997+715_997+729dup NM_032531.4:c.997+714_997+729dup NM_032531.4:c.997+713_997+729dup NM_032531.4:c.997+712_997+729dup NM_032531.4:c.997+711_997+729dup NM_032531.4:c.997+710_997+729dup NM_032531.4:c.997+709_997+729dup NM_032531.4:c.997+729_997+730insTTTTTTTTTTTTTTTTTTTTTTTT
KIRREL3 transcript variant X1 XM_005271702.1:c.997+729= XM_005271702.1:c.997+720_997+729del XM_005271702.1:c.997+722_997+729del XM_005271702.1:c.997+723_997+729del XM_005271702.1:c.997+724_997+729del XM_005271702.1:c.997+725_997+729del XM_005271702.1:c.997+726_997+729del XM_005271702.1:c.997+727_997+729del XM_005271702.1:c.997+728_997+729del XM_005271702.1:c.997+729del XM_005271702.1:c.997+729dup XM_005271702.1:c.997+728_997+729dup XM_005271702.1:c.997+727_997+729dup XM_005271702.1:c.997+726_997+729dup XM_005271702.1:c.997+725_997+729dup XM_005271702.1:c.997+724_997+729dup XM_005271702.1:c.997+723_997+729dup XM_005271702.1:c.997+722_997+729dup XM_005271702.1:c.997+721_997+729dup XM_005271702.1:c.997+720_997+729dup XM_005271702.1:c.997+719_997+729dup XM_005271702.1:c.997+718_997+729dup XM_005271702.1:c.997+717_997+729dup XM_005271702.1:c.997+716_997+729dup XM_005271702.1:c.997+715_997+729dup XM_005271702.1:c.997+714_997+729dup XM_005271702.1:c.997+713_997+729dup XM_005271702.1:c.997+712_997+729dup XM_005271702.1:c.997+711_997+729dup XM_005271702.1:c.997+710_997+729dup XM_005271702.1:c.997+709_997+729dup XM_005271702.1:c.997+729_997+730insTTTTTTTTTTTTTTTTTTTTTTTT
KIRREL3 transcript variant X1 XM_011543026.3:c.1015+729= XM_011543026.3:c.1015+720_1015+729del XM_011543026.3:c.1015+722_1015+729del XM_011543026.3:c.1015+723_1015+729del XM_011543026.3:c.1015+724_1015+729del XM_011543026.3:c.1015+725_1015+729del XM_011543026.3:c.1015+726_1015+729del XM_011543026.3:c.1015+727_1015+729del XM_011543026.3:c.1015+728_1015+729del XM_011543026.3:c.1015+729del XM_011543026.3:c.1015+729dup XM_011543026.3:c.1015+728_1015+729dup XM_011543026.3:c.1015+727_1015+729dup XM_011543026.3:c.1015+726_1015+729dup XM_011543026.3:c.1015+725_1015+729dup XM_011543026.3:c.1015+724_1015+729dup XM_011543026.3:c.1015+723_1015+729dup XM_011543026.3:c.1015+722_1015+729dup XM_011543026.3:c.1015+721_1015+729dup XM_011543026.3:c.1015+720_1015+729dup XM_011543026.3:c.1015+719_1015+729dup XM_011543026.3:c.1015+718_1015+729dup XM_011543026.3:c.1015+717_1015+729dup XM_011543026.3:c.1015+716_1015+729dup XM_011543026.3:c.1015+715_1015+729dup XM_011543026.3:c.1015+714_1015+729dup XM_011543026.3:c.1015+713_1015+729dup XM_011543026.3:c.1015+712_1015+729dup XM_011543026.3:c.1015+711_1015+729dup XM_011543026.3:c.1015+710_1015+729dup XM_011543026.3:c.1015+709_1015+729dup XM_011543026.3:c.1015+729_1015+730insTTTTTTTTTTTTTTTTTTTTTTTT
KIRREL3 transcript variant X5 XM_011543027.3:c.997+729= XM_011543027.3:c.997+720_997+729del XM_011543027.3:c.997+722_997+729del XM_011543027.3:c.997+723_997+729del XM_011543027.3:c.997+724_997+729del XM_011543027.3:c.997+725_997+729del XM_011543027.3:c.997+726_997+729del XM_011543027.3:c.997+727_997+729del XM_011543027.3:c.997+728_997+729del XM_011543027.3:c.997+729del XM_011543027.3:c.997+729dup XM_011543027.3:c.997+728_997+729dup XM_011543027.3:c.997+727_997+729dup XM_011543027.3:c.997+726_997+729dup XM_011543027.3:c.997+725_997+729dup XM_011543027.3:c.997+724_997+729dup XM_011543027.3:c.997+723_997+729dup XM_011543027.3:c.997+722_997+729dup XM_011543027.3:c.997+721_997+729dup XM_011543027.3:c.997+720_997+729dup XM_011543027.3:c.997+719_997+729dup XM_011543027.3:c.997+718_997+729dup XM_011543027.3:c.997+717_997+729dup XM_011543027.3:c.997+716_997+729dup XM_011543027.3:c.997+715_997+729dup XM_011543027.3:c.997+714_997+729dup XM_011543027.3:c.997+713_997+729dup XM_011543027.3:c.997+712_997+729dup XM_011543027.3:c.997+711_997+729dup XM_011543027.3:c.997+710_997+729dup XM_011543027.3:c.997+709_997+729dup XM_011543027.3:c.997+729_997+730insTTTTTTTTTTTTTTTTTTTTTTTT
KIRREL3 transcript variant X2 XM_011543030.4:c.1015+729= XM_011543030.4:c.1015+720_1015+729del XM_011543030.4:c.1015+722_1015+729del XM_011543030.4:c.1015+723_1015+729del XM_011543030.4:c.1015+724_1015+729del XM_011543030.4:c.1015+725_1015+729del XM_011543030.4:c.1015+726_1015+729del XM_011543030.4:c.1015+727_1015+729del XM_011543030.4:c.1015+728_1015+729del XM_011543030.4:c.1015+729del XM_011543030.4:c.1015+729dup XM_011543030.4:c.1015+728_1015+729dup XM_011543030.4:c.1015+727_1015+729dup XM_011543030.4:c.1015+726_1015+729dup XM_011543030.4:c.1015+725_1015+729dup XM_011543030.4:c.1015+724_1015+729dup XM_011543030.4:c.1015+723_1015+729dup XM_011543030.4:c.1015+722_1015+729dup XM_011543030.4:c.1015+721_1015+729dup XM_011543030.4:c.1015+720_1015+729dup XM_011543030.4:c.1015+719_1015+729dup XM_011543030.4:c.1015+718_1015+729dup XM_011543030.4:c.1015+717_1015+729dup XM_011543030.4:c.1015+716_1015+729dup XM_011543030.4:c.1015+715_1015+729dup XM_011543030.4:c.1015+714_1015+729dup XM_011543030.4:c.1015+713_1015+729dup XM_011543030.4:c.1015+712_1015+729dup XM_011543030.4:c.1015+711_1015+729dup XM_011543030.4:c.1015+710_1015+729dup XM_011543030.4:c.1015+709_1015+729dup XM_011543030.4:c.1015+729_1015+730insTTTTTTTTTTTTTTTTTTTTTTTT
KIRREL3 transcript variant X3 XM_011543032.4:c.1015+729= XM_011543032.4:c.1015+720_1015+729del XM_011543032.4:c.1015+722_1015+729del XM_011543032.4:c.1015+723_1015+729del XM_011543032.4:c.1015+724_1015+729del XM_011543032.4:c.1015+725_1015+729del XM_011543032.4:c.1015+726_1015+729del XM_011543032.4:c.1015+727_1015+729del XM_011543032.4:c.1015+728_1015+729del XM_011543032.4:c.1015+729del XM_011543032.4:c.1015+729dup XM_011543032.4:c.1015+728_1015+729dup XM_011543032.4:c.1015+727_1015+729dup XM_011543032.4:c.1015+726_1015+729dup XM_011543032.4:c.1015+725_1015+729dup XM_011543032.4:c.1015+724_1015+729dup XM_011543032.4:c.1015+723_1015+729dup XM_011543032.4:c.1015+722_1015+729dup XM_011543032.4:c.1015+721_1015+729dup XM_011543032.4:c.1015+720_1015+729dup XM_011543032.4:c.1015+719_1015+729dup XM_011543032.4:c.1015+718_1015+729dup XM_011543032.4:c.1015+717_1015+729dup XM_011543032.4:c.1015+716_1015+729dup XM_011543032.4:c.1015+715_1015+729dup XM_011543032.4:c.1015+714_1015+729dup XM_011543032.4:c.1015+713_1015+729dup XM_011543032.4:c.1015+712_1015+729dup XM_011543032.4:c.1015+711_1015+729dup XM_011543032.4:c.1015+710_1015+729dup XM_011543032.4:c.1015+709_1015+729dup XM_011543032.4:c.1015+729_1015+730insTTTTTTTTTTTTTTTTTTTTTTTT
KIRREL3 transcript variant X6 XM_017018419.2:c.997+729= XM_017018419.2:c.997+720_997+729del XM_017018419.2:c.997+722_997+729del XM_017018419.2:c.997+723_997+729del XM_017018419.2:c.997+724_997+729del XM_017018419.2:c.997+725_997+729del XM_017018419.2:c.997+726_997+729del XM_017018419.2:c.997+727_997+729del XM_017018419.2:c.997+728_997+729del XM_017018419.2:c.997+729del XM_017018419.2:c.997+729dup XM_017018419.2:c.997+728_997+729dup XM_017018419.2:c.997+727_997+729dup XM_017018419.2:c.997+726_997+729dup XM_017018419.2:c.997+725_997+729dup XM_017018419.2:c.997+724_997+729dup XM_017018419.2:c.997+723_997+729dup XM_017018419.2:c.997+722_997+729dup XM_017018419.2:c.997+721_997+729dup XM_017018419.2:c.997+720_997+729dup XM_017018419.2:c.997+719_997+729dup XM_017018419.2:c.997+718_997+729dup XM_017018419.2:c.997+717_997+729dup XM_017018419.2:c.997+716_997+729dup XM_017018419.2:c.997+715_997+729dup XM_017018419.2:c.997+714_997+729dup XM_017018419.2:c.997+713_997+729dup XM_017018419.2:c.997+712_997+729dup XM_017018419.2:c.997+711_997+729dup XM_017018419.2:c.997+710_997+729dup XM_017018419.2:c.997+709_997+729dup XM_017018419.2:c.997+729_997+730insTTTTTTTTTTTTTTTTTTTTTTTT
KIRREL3 transcript variant X4 XM_047427715.1:c.430+729= XM_047427715.1:c.430+720_430+729del XM_047427715.1:c.430+722_430+729del XM_047427715.1:c.430+723_430+729del XM_047427715.1:c.430+724_430+729del XM_047427715.1:c.430+725_430+729del XM_047427715.1:c.430+726_430+729del XM_047427715.1:c.430+727_430+729del XM_047427715.1:c.430+728_430+729del XM_047427715.1:c.430+729del XM_047427715.1:c.430+729dup XM_047427715.1:c.430+728_430+729dup XM_047427715.1:c.430+727_430+729dup XM_047427715.1:c.430+726_430+729dup XM_047427715.1:c.430+725_430+729dup XM_047427715.1:c.430+724_430+729dup XM_047427715.1:c.430+723_430+729dup XM_047427715.1:c.430+722_430+729dup XM_047427715.1:c.430+721_430+729dup XM_047427715.1:c.430+720_430+729dup XM_047427715.1:c.430+719_430+729dup XM_047427715.1:c.430+718_430+729dup XM_047427715.1:c.430+717_430+729dup XM_047427715.1:c.430+716_430+729dup XM_047427715.1:c.430+715_430+729dup XM_047427715.1:c.430+714_430+729dup XM_047427715.1:c.430+713_430+729dup XM_047427715.1:c.430+712_430+729dup XM_047427715.1:c.430+711_430+729dup XM_047427715.1:c.430+710_430+729dup XM_047427715.1:c.430+709_430+729dup XM_047427715.1:c.430+729_430+730insTTTTTTTTTTTTTTTTTTTTTTTT
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

65 SubSNP, 44 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss77866796 Dec 06, 2007 (129)
2 EVA_UK10K_ALSPAC ss1707300467 Apr 01, 2015 (144)
3 EVA_UK10K_TWINSUK ss1707300528 Apr 01, 2015 (144)
4 EVA_UK10K_ALSPAC ss1710538209 Apr 01, 2015 (144)
5 EVA_UK10K_TWINSUK ss1710538214 Apr 01, 2015 (144)
6 MCHAISSO ss3065454784 Nov 08, 2017 (151)
7 EVA_DECODE ss3692814059 Jul 13, 2019 (153)
8 EVA_DECODE ss3692814060 Jul 13, 2019 (153)
9 EVA_DECODE ss3692814061 Jul 13, 2019 (153)
10 EVA_DECODE ss3692814062 Jul 13, 2019 (153)
11 EVA_DECODE ss3692814063 Jul 13, 2019 (153)
12 EVA_DECODE ss3692814064 Jul 13, 2019 (153)
13 PACBIO ss3787097935 Jul 13, 2019 (153)
14 PACBIO ss3792217585 Jul 13, 2019 (153)
15 PACBIO ss3797100114 Jul 13, 2019 (153)
16 EVA ss3832894485 Apr 26, 2020 (154)
17 GNOMAD ss4244446052 Apr 26, 2021 (155)
18 GNOMAD ss4244446053 Apr 26, 2021 (155)
19 GNOMAD ss4244446054 Apr 26, 2021 (155)
20 GNOMAD ss4244446055 Apr 26, 2021 (155)
21 GNOMAD ss4244446056 Apr 26, 2021 (155)
22 GNOMAD ss4244446057 Apr 26, 2021 (155)
23 GNOMAD ss4244446058 Apr 26, 2021 (155)
24 GNOMAD ss4244446059 Apr 26, 2021 (155)
25 GNOMAD ss4244446060 Apr 26, 2021 (155)
26 GNOMAD ss4244446061 Apr 26, 2021 (155)
27 GNOMAD ss4244446062 Apr 26, 2021 (155)
28 GNOMAD ss4244446063 Apr 26, 2021 (155)
29 GNOMAD ss4244446064 Apr 26, 2021 (155)
30 GNOMAD ss4244446065 Apr 26, 2021 (155)
31 GNOMAD ss4244446066 Apr 26, 2021 (155)
32 GNOMAD ss4244446067 Apr 26, 2021 (155)
33 GNOMAD ss4244446068 Apr 26, 2021 (155)
34 GNOMAD ss4244446069 Apr 26, 2021 (155)
35 GNOMAD ss4244446070 Apr 26, 2021 (155)
36 GNOMAD ss4244446071 Apr 26, 2021 (155)
37 GNOMAD ss4244446072 Apr 26, 2021 (155)
38 GNOMAD ss4244446073 Apr 26, 2021 (155)
39 GNOMAD ss4244446075 Apr 26, 2021 (155)
40 GNOMAD ss4244446076 Apr 26, 2021 (155)
41 GNOMAD ss4244446077 Apr 26, 2021 (155)
42 GNOMAD ss4244446078 Apr 26, 2021 (155)
43 GNOMAD ss4244446079 Apr 26, 2021 (155)
44 GNOMAD ss4244446080 Apr 26, 2021 (155)
45 GNOMAD ss4244446081 Apr 26, 2021 (155)
46 GNOMAD ss4244446082 Apr 26, 2021 (155)
47 TOMMO_GENOMICS ss5204380289 Apr 26, 2021 (155)
48 TOMMO_GENOMICS ss5204380290 Apr 26, 2021 (155)
49 TOMMO_GENOMICS ss5204380291 Apr 26, 2021 (155)
50 TOMMO_GENOMICS ss5204380292 Apr 26, 2021 (155)
51 TOMMO_GENOMICS ss5204380293 Apr 26, 2021 (155)
52 1000G_HIGH_COVERAGE ss5289279552 Oct 16, 2022 (156)
53 1000G_HIGH_COVERAGE ss5289279553 Oct 16, 2022 (156)
54 1000G_HIGH_COVERAGE ss5289279554 Oct 16, 2022 (156)
55 1000G_HIGH_COVERAGE ss5289279556 Oct 16, 2022 (156)
56 1000G_HIGH_COVERAGE ss5289279557 Oct 16, 2022 (156)
57 HUGCELL_USP ss5484230266 Oct 16, 2022 (156)
58 HUGCELL_USP ss5484230267 Oct 16, 2022 (156)
59 HUGCELL_USP ss5484230268 Oct 16, 2022 (156)
60 HUGCELL_USP ss5484230269 Oct 16, 2022 (156)
61 HUGCELL_USP ss5484230270 Oct 16, 2022 (156)
62 TOMMO_GENOMICS ss5752972231 Oct 16, 2022 (156)
63 TOMMO_GENOMICS ss5752972232 Oct 16, 2022 (156)
64 TOMMO_GENOMICS ss5752972233 Oct 16, 2022 (156)
65 TOMMO_GENOMICS ss5752972234 Oct 16, 2022 (156)
66 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 31092753 (NC_000011.9:126318175:AA: 2119/3854)
Row 31092754 (NC_000011.9:126318174:AAAA: 828/3854)

- Oct 12, 2018 (152)
67 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 31092753 (NC_000011.9:126318175:AA: 2119/3854)
Row 31092754 (NC_000011.9:126318174:AAAA: 828/3854)

- Oct 12, 2018 (152)
68 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
69 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
70 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
71 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
72 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
73 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
74 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
75 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
76 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
77 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
78 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
79 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
80 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
81 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
82 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
83 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
84 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
85 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
86 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
87 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
88 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
89 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
90 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
91 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
92 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
93 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
94 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
95 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
96 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
97 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 395055601 (NC_000011.10:126448279::A 1222/87086)
Row 395055602 (NC_000011.10:126448279::AA 28/87258)
Row 395055603 (NC_000011.10:126448279::AAA 5/87360)...

- Apr 26, 2021 (155)
98 8.3KJPN

Submission ignored due to conflicting rows:
Row 62349596 (NC_000011.9:126318174:A: 8249/16202)
Row 62349597 (NC_000011.9:126318174:AAA: 2029/16202)
Row 62349598 (NC_000011.9:126318174:AAAA: 20/16202)...

- Apr 26, 2021 (155)
99 8.3KJPN

Submission ignored due to conflicting rows:
Row 62349596 (NC_000011.9:126318174:A: 8249/16202)
Row 62349597 (NC_000011.9:126318174:AAA: 2029/16202)
Row 62349598 (NC_000011.9:126318174:AAAA: 20/16202)...

- Apr 26, 2021 (155)
100 8.3KJPN

Submission ignored due to conflicting rows:
Row 62349596 (NC_000011.9:126318174:A: 8249/16202)
Row 62349597 (NC_000011.9:126318174:AAA: 2029/16202)
Row 62349598 (NC_000011.9:126318174:AAAA: 20/16202)...

- Apr 26, 2021 (155)
101 8.3KJPN

Submission ignored due to conflicting rows:
Row 62349596 (NC_000011.9:126318174:A: 8249/16202)
Row 62349597 (NC_000011.9:126318174:AAA: 2029/16202)
Row 62349598 (NC_000011.9:126318174:AAAA: 20/16202)...

- Apr 26, 2021 (155)
102 8.3KJPN

Submission ignored due to conflicting rows:
Row 62349596 (NC_000011.9:126318174:A: 8249/16202)
Row 62349597 (NC_000011.9:126318174:AAA: 2029/16202)
Row 62349598 (NC_000011.9:126318174:AAAA: 20/16202)...

- Apr 26, 2021 (155)
103 14KJPN

Submission ignored due to conflicting rows:
Row 86809335 (NC_000011.10:126448279:AAA: 3614/27062)
Row 86809336 (NC_000011.10:126448279:A: 14037/27062)
Row 86809337 (NC_000011.10:126448279:AAAA: 39/27062)...

- Oct 16, 2022 (156)
104 14KJPN

Submission ignored due to conflicting rows:
Row 86809335 (NC_000011.10:126448279:AAA: 3614/27062)
Row 86809336 (NC_000011.10:126448279:A: 14037/27062)
Row 86809337 (NC_000011.10:126448279:AAAA: 39/27062)...

- Oct 16, 2022 (156)
105 14KJPN

Submission ignored due to conflicting rows:
Row 86809335 (NC_000011.10:126448279:AAA: 3614/27062)
Row 86809336 (NC_000011.10:126448279:A: 14037/27062)
Row 86809337 (NC_000011.10:126448279:AAAA: 39/27062)...

- Oct 16, 2022 (156)
106 14KJPN

Submission ignored due to conflicting rows:
Row 86809335 (NC_000011.10:126448279:AAA: 3614/27062)
Row 86809336 (NC_000011.10:126448279:A: 14037/27062)
Row 86809337 (NC_000011.10:126448279:AAAA: 39/27062)...

- Oct 16, 2022 (156)
107 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 31092753 (NC_000011.9:126318175:AA: 2055/3708)
Row 31092754 (NC_000011.9:126318174:AAAA: 799/3708)

- Oct 12, 2018 (152)
108 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 31092753 (NC_000011.9:126318175:AA: 2055/3708)
Row 31092754 (NC_000011.9:126318174:AAAA: 799/3708)

- Oct 12, 2018 (152)
109 ALFA NC_000011.10 - 126448280 Apr 26, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4244446082 NC_000011.10:126448279:AAAAAAAAAA: NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
2583941636 NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4244446081 NC_000011.10:126448279:AAAAAAAA: NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
2583941636 NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4244446080 NC_000011.10:126448279:AAAAAAA: NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
2583941636 NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
2583941636 NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3692814064, ss4244446079 NC_000011.10:126448279:AAAAA: NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
2583941636 NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss1707300467, ss1707300528, ss5204380291 NC_000011.9:126318174:AAAA: NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3065454784, ss4244446078, ss5289279552, ss5484230266, ss5752972233 NC_000011.10:126448279:AAAA: NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
2583941636 NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3692814063 NC_000011.10:126448280:AAAA: NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss5204380290 NC_000011.9:126318174:AAA: NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss1710538209, ss1710538214 NC_000011.9:126318175:AAA: NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4244446077, ss5289279553, ss5484230267, ss5752972231 NC_000011.10:126448279:AAA: NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
2583941636 NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3692814062 NC_000011.10:126448281:AAA: NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss77866796 NC_000011.8:125823404:AA: NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3787097935, ss5204380292 NC_000011.9:126318174:AA: NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
NC_000011.9:126318175:AA: NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4244446076, ss5289279554, ss5484230268, ss5752972234 NC_000011.10:126448279:AA: NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
2583941636 NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3692814061 NC_000011.10:126448282:AA: NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3792217585, ss3797100114, ss5204380289 NC_000011.9:126318174:A: NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss4244446075, ss5289279556, ss5484230270, ss5752972232 NC_000011.10:126448279:A: NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
2583941636 NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3692814060 NC_000011.10:126448283:A: NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3832894485, ss5204380293 NC_000011.9:126318174::A NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4244446052, ss5289279557, ss5484230269 NC_000011.10:126448279::A NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
2583941636 NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3692814059 NC_000011.10:126448284::A NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4244446053 NC_000011.10:126448279::AA NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
2583941636 NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4244446054 NC_000011.10:126448279::AAA NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4244446055 NC_000011.10:126448279::AAAA NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4244446056 NC_000011.10:126448279::AAAAA NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4244446057 NC_000011.10:126448279::AAAAAA NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4244446058 NC_000011.10:126448279::AAAAAAA NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4244446059 NC_000011.10:126448279::AAAAAAAA NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4244446060 NC_000011.10:126448279::AAAAAAAAA NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4244446061 NC_000011.10:126448279::AAAAAAAAAA NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4244446062 NC_000011.10:126448279::AAAAAAAAAAA NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4244446063 NC_000011.10:126448279::AAAAAAAAAA…

NC_000011.10:126448279::AAAAAAAAAAAA

NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4244446064 NC_000011.10:126448279::AAAAAAAAAA…

NC_000011.10:126448279::AAAAAAAAAAAAA

NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4244446065 NC_000011.10:126448279::AAAAAAAAAA…

NC_000011.10:126448279::AAAAAAAAAAAAAA

NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4244446066 NC_000011.10:126448279::AAAAAAAAAA…

NC_000011.10:126448279::AAAAAAAAAAAAAAA

NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4244446067 NC_000011.10:126448279::AAAAAAAAAA…

NC_000011.10:126448279::AAAAAAAAAAAAAAAA

NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4244446068 NC_000011.10:126448279::AAAAAAAAAA…

NC_000011.10:126448279::AAAAAAAAAAAAAAAAA

NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4244446069 NC_000011.10:126448279::AAAAAAAAAA…

NC_000011.10:126448279::AAAAAAAAAAAAAAAAAA

NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4244446070 NC_000011.10:126448279::AAAAAAAAAA…

NC_000011.10:126448279::AAAAAAAAAAAAAAAAAAA

NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4244446071 NC_000011.10:126448279::AAAAAAAAAA…

NC_000011.10:126448279::AAAAAAAAAAAAAAAAAAAA

NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4244446072 NC_000011.10:126448279::AAAAAAAAAA…

NC_000011.10:126448279::AAAAAAAAAAAAAAAAAAAAA

NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4244446073 NC_000011.10:126448279::AAAAAAAAAA…

NC_000011.10:126448279::AAAAAAAAAAAAAAAAAAAAAAAA

NC_000011.10:126448279:AAAAAAAAAAA…

NC_000011.10:126448279:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs55787866

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d