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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.

rs200143022

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:246950651-246950677 (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)18 / del(A)16 / del(A)15 / d…

del(A)18 / del(A)16 / del(A)15 / del(A)14 / del(A)13 / del(A)12 / del(A)11 / del(A)10 / del(A)9 / 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)13

Variation Type
Indel Insertion and Deletion
Frequency
del(A)8=0.1218 (610/5008, 1000G)
del(A)16=0.00 (0/50, ALFA)
del(A)15=0.00 (0/50, ALFA) (+ 21 more)
del(A)14=0.00 (0/50, ALFA)
del(A)13=0.00 (0/50, ALFA)
del(A)12=0.00 (0/50, ALFA)
del(A)11=0.00 (0/50, ALFA)
del(A)10=0.00 (0/50, ALFA)
del(A)9=0.00 (0/50, ALFA)
del(A)8=0.00 (0/50, ALFA)
del(A)7=0.00 (0/50, ALFA)
del(A)6=0.00 (0/50, ALFA)
del(A)5=0.00 (0/50, ALFA)
del(A)4=0.00 (0/50, ALFA)
delAAA=0.00 (0/50, ALFA)
delAA=0.00 (0/50, ALFA)
delA=0.00 (0/50, ALFA)
dupA=0.00 (0/50, ALFA)
dupAA=0.00 (0/50, ALFA)
dupAAA=0.00 (0/50, ALFA)
dup(A)4=0.00 (0/50, ALFA)
dup(A)5=0.00 (0/50, ALFA)
dup(A)6=0.00 (0/50, ALFA)
(A)27=0.00 (0/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ZNF695 : Intron Variant
ZNF670-ZNF695 : 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 50 AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
European Sub 20 AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African Sub 28 AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African Others Sub 2 AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
African American Sub 26 AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Asian Sub 0 AAAAAAAAAAAAAAAAAAAAAAAAAAA=0 AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
East Asian Sub 0 AAAAAAAAAAAAAAAAAAAAAAAAAAA=0 AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Other Asian Sub 0 AAAAAAAAAAAAAAAAAAAAAAAAAAA=0 AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Latin American 1 Sub 0 AAAAAAAAAAAAAAAAAAAAAAAAAAA=0 AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Latin American 2 Sub 2 AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
South Asian Sub 0 AAAAAAAAAAAAAAAAAAAAAAAAAAA=0 AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Other Sub 0 AAAAAAAAAAAAAAAAAAAAAAAAAAA=0 AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=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
1000Genomes Global Study-wide 5008 (A)27=0.8782 del(A)8=0.1218
1000Genomes African Sub 1322 (A)27=0.9781 del(A)8=0.0219
1000Genomes East Asian Sub 1008 (A)27=0.8194 del(A)8=0.1806
1000Genomes Europe Sub 1006 (A)27=0.8469 del(A)8=0.1531
1000Genomes South Asian Sub 978 (A)27=0.852 del(A)8=0.148
1000Genomes American Sub 694 (A)27=0.856 del(A)8=0.144
Allele Frequency Aggregator Total Global 50 (A)27=1.00 del(A)16=0.00, del(A)15=0.00, del(A)14=0.00, del(A)13=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=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, dupAAA=0.00, dup(A)4=0.00, dup(A)5=0.00, dup(A)6=0.00
Allele Frequency Aggregator African Sub 28 (A)27=1.00 del(A)16=0.00, del(A)15=0.00, del(A)14=0.00, del(A)13=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=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, dupAAA=0.00, dup(A)4=0.00, dup(A)5=0.00, dup(A)6=0.00
Allele Frequency Aggregator European Sub 20 (A)27=1.00 del(A)16=0.00, del(A)15=0.00, del(A)14=0.00, del(A)13=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=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, dupAAA=0.00, dup(A)4=0.00, dup(A)5=0.00, dup(A)6=0.00
Allele Frequency Aggregator Latin American 2 Sub 2 (A)27=1.0 del(A)16=0.0, del(A)15=0.0, del(A)14=0.0, del(A)13=0.0, del(A)12=0.0, del(A)11=0.0, del(A)10=0.0, del(A)9=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, dupAAA=0.0, dup(A)4=0.0, dup(A)5=0.0, dup(A)6=0.0
Allele Frequency Aggregator Latin American 1 Sub 0 (A)27=0 del(A)16=0, del(A)15=0, del(A)14=0, del(A)13=0, del(A)12=0, del(A)11=0, del(A)10=0, del(A)9=0, del(A)8=0, del(A)7=0, del(A)6=0, del(A)5=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)4=0, dup(A)5=0, dup(A)6=0
Allele Frequency Aggregator South Asian Sub 0 (A)27=0 del(A)16=0, del(A)15=0, del(A)14=0, del(A)13=0, del(A)12=0, del(A)11=0, del(A)10=0, del(A)9=0, del(A)8=0, del(A)7=0, del(A)6=0, del(A)5=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)4=0, dup(A)5=0, dup(A)6=0
Allele Frequency Aggregator Other Sub 0 (A)27=0 del(A)16=0, del(A)15=0, del(A)14=0, del(A)13=0, del(A)12=0, del(A)11=0, del(A)10=0, del(A)9=0, del(A)8=0, del(A)7=0, del(A)6=0, del(A)5=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)4=0, dup(A)5=0, dup(A)6=0
Allele Frequency Aggregator Asian Sub 0 (A)27=0 del(A)16=0, del(A)15=0, del(A)14=0, del(A)13=0, del(A)12=0, del(A)11=0, del(A)10=0, del(A)9=0, del(A)8=0, del(A)7=0, del(A)6=0, del(A)5=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)4=0, dup(A)5=0, dup(A)6=0
The Danish reference pan genome Danish Study-wide 40 (A)27=0.00 del(A)13=1.00
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 1 NC_000001.11:g.246950660_246950677del
GRCh38.p14 chr 1 NC_000001.11:g.246950662_246950677del
GRCh38.p14 chr 1 NC_000001.11:g.246950663_246950677del
GRCh38.p14 chr 1 NC_000001.11:g.246950664_246950677del
GRCh38.p14 chr 1 NC_000001.11:g.246950665_246950677del
GRCh38.p14 chr 1 NC_000001.11:g.246950666_246950677del
GRCh38.p14 chr 1 NC_000001.11:g.246950667_246950677del
GRCh38.p14 chr 1 NC_000001.11:g.246950668_246950677del
GRCh38.p14 chr 1 NC_000001.11:g.246950669_246950677del
GRCh38.p14 chr 1 NC_000001.11:g.246950670_246950677del
GRCh38.p14 chr 1 NC_000001.11:g.246950671_246950677del
GRCh38.p14 chr 1 NC_000001.11:g.246950672_246950677del
GRCh38.p14 chr 1 NC_000001.11:g.246950673_246950677del
GRCh38.p14 chr 1 NC_000001.11:g.246950674_246950677del
GRCh38.p14 chr 1 NC_000001.11:g.246950675_246950677del
GRCh38.p14 chr 1 NC_000001.11:g.246950676_246950677del
GRCh38.p14 chr 1 NC_000001.11:g.246950677del
GRCh38.p14 chr 1 NC_000001.11:g.246950677dup
GRCh38.p14 chr 1 NC_000001.11:g.246950676_246950677dup
GRCh38.p14 chr 1 NC_000001.11:g.246950675_246950677dup
GRCh38.p14 chr 1 NC_000001.11:g.246950674_246950677dup
GRCh38.p14 chr 1 NC_000001.11:g.246950673_246950677dup
GRCh38.p14 chr 1 NC_000001.11:g.246950672_246950677dup
GRCh38.p14 chr 1 NC_000001.11:g.246950671_246950677dup
GRCh38.p14 chr 1 NC_000001.11:g.246950665_246950677dup
GRCh37.p13 chr 1 NC_000001.10:g.247113962_247113979del
GRCh37.p13 chr 1 NC_000001.10:g.247113964_247113979del
GRCh37.p13 chr 1 NC_000001.10:g.247113965_247113979del
GRCh37.p13 chr 1 NC_000001.10:g.247113966_247113979del
GRCh37.p13 chr 1 NC_000001.10:g.247113967_247113979del
GRCh37.p13 chr 1 NC_000001.10:g.247113968_247113979del
GRCh37.p13 chr 1 NC_000001.10:g.247113969_247113979del
GRCh37.p13 chr 1 NC_000001.10:g.247113970_247113979del
GRCh37.p13 chr 1 NC_000001.10:g.247113971_247113979del
GRCh37.p13 chr 1 NC_000001.10:g.247113972_247113979del
GRCh37.p13 chr 1 NC_000001.10:g.247113973_247113979del
GRCh37.p13 chr 1 NC_000001.10:g.247113974_247113979del
GRCh37.p13 chr 1 NC_000001.10:g.247113975_247113979del
GRCh37.p13 chr 1 NC_000001.10:g.247113976_247113979del
GRCh37.p13 chr 1 NC_000001.10:g.247113977_247113979del
GRCh37.p13 chr 1 NC_000001.10:g.247113978_247113979del
GRCh37.p13 chr 1 NC_000001.10:g.247113979del
GRCh37.p13 chr 1 NC_000001.10:g.247113979dup
GRCh37.p13 chr 1 NC_000001.10:g.247113978_247113979dup
GRCh37.p13 chr 1 NC_000001.10:g.247113977_247113979dup
GRCh37.p13 chr 1 NC_000001.10:g.247113976_247113979dup
GRCh37.p13 chr 1 NC_000001.10:g.247113975_247113979dup
GRCh37.p13 chr 1 NC_000001.10:g.247113974_247113979dup
GRCh37.p13 chr 1 NC_000001.10:g.247113973_247113979dup
GRCh37.p13 chr 1 NC_000001.10:g.247113967_247113979dup
Gene: ZNF695, zinc finger protein 695 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ZNF695 transcript variant 2 NM_001204221.2:c.489-4841…

NM_001204221.2:c.489-4841_489-4824del

N/A Intron Variant
ZNF695 transcript variant 1 NM_020394.5:c. N/A Genic Downstream Transcript Variant
ZNF695 transcript variant 3 NR_037892.2:n. N/A Intron Variant
Gene: ZNF670-ZNF695, ZNF670-ZNF695 readthrough (NMD candidate) (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ZNF670-ZNF695 transcript NR_037894.2:n. 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)27= del(A)18 del(A)16 del(A)15 del(A)14 del(A)13 del(A)12 del(A)11 del(A)10 del(A)9 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)13
GRCh38.p14 chr 1 NC_000001.11:g.246950651_246950677= NC_000001.11:g.246950660_246950677del NC_000001.11:g.246950662_246950677del NC_000001.11:g.246950663_246950677del NC_000001.11:g.246950664_246950677del NC_000001.11:g.246950665_246950677del NC_000001.11:g.246950666_246950677del NC_000001.11:g.246950667_246950677del NC_000001.11:g.246950668_246950677del NC_000001.11:g.246950669_246950677del NC_000001.11:g.246950670_246950677del NC_000001.11:g.246950671_246950677del NC_000001.11:g.246950672_246950677del NC_000001.11:g.246950673_246950677del NC_000001.11:g.246950674_246950677del NC_000001.11:g.246950675_246950677del NC_000001.11:g.246950676_246950677del NC_000001.11:g.246950677del NC_000001.11:g.246950677dup NC_000001.11:g.246950676_246950677dup NC_000001.11:g.246950675_246950677dup NC_000001.11:g.246950674_246950677dup NC_000001.11:g.246950673_246950677dup NC_000001.11:g.246950672_246950677dup NC_000001.11:g.246950671_246950677dup NC_000001.11:g.246950665_246950677dup
GRCh37.p13 chr 1 NC_000001.10:g.247113953_247113979= NC_000001.10:g.247113962_247113979del NC_000001.10:g.247113964_247113979del NC_000001.10:g.247113965_247113979del NC_000001.10:g.247113966_247113979del NC_000001.10:g.247113967_247113979del NC_000001.10:g.247113968_247113979del NC_000001.10:g.247113969_247113979del NC_000001.10:g.247113970_247113979del NC_000001.10:g.247113971_247113979del NC_000001.10:g.247113972_247113979del NC_000001.10:g.247113973_247113979del NC_000001.10:g.247113974_247113979del NC_000001.10:g.247113975_247113979del NC_000001.10:g.247113976_247113979del NC_000001.10:g.247113977_247113979del NC_000001.10:g.247113978_247113979del NC_000001.10:g.247113979del NC_000001.10:g.247113979dup NC_000001.10:g.247113978_247113979dup NC_000001.10:g.247113977_247113979dup NC_000001.10:g.247113976_247113979dup NC_000001.10:g.247113975_247113979dup NC_000001.10:g.247113974_247113979dup NC_000001.10:g.247113973_247113979dup NC_000001.10:g.247113967_247113979dup
ZNF695 transcript variant 2 NM_001204221.1:c.489-4824= NM_001204221.1:c.489-4841_489-4824del NM_001204221.1:c.489-4839_489-4824del NM_001204221.1:c.489-4838_489-4824del NM_001204221.1:c.489-4837_489-4824del NM_001204221.1:c.489-4836_489-4824del NM_001204221.1:c.489-4835_489-4824del NM_001204221.1:c.489-4834_489-4824del NM_001204221.1:c.489-4833_489-4824del NM_001204221.1:c.489-4832_489-4824del NM_001204221.1:c.489-4831_489-4824del NM_001204221.1:c.489-4830_489-4824del NM_001204221.1:c.489-4829_489-4824del NM_001204221.1:c.489-4828_489-4824del NM_001204221.1:c.489-4827_489-4824del NM_001204221.1:c.489-4826_489-4824del NM_001204221.1:c.489-4825_489-4824del NM_001204221.1:c.489-4824del NM_001204221.1:c.489-4824dup NM_001204221.1:c.489-4825_489-4824dup NM_001204221.1:c.489-4826_489-4824dup NM_001204221.1:c.489-4827_489-4824dup NM_001204221.1:c.489-4828_489-4824dup NM_001204221.1:c.489-4829_489-4824dup NM_001204221.1:c.489-4830_489-4824dup NM_001204221.1:c.489-4836_489-4824dup
ZNF695 transcript variant 2 NM_001204221.2:c.489-4824= NM_001204221.2:c.489-4841_489-4824del NM_001204221.2:c.489-4839_489-4824del NM_001204221.2:c.489-4838_489-4824del NM_001204221.2:c.489-4837_489-4824del NM_001204221.2:c.489-4836_489-4824del NM_001204221.2:c.489-4835_489-4824del NM_001204221.2:c.489-4834_489-4824del NM_001204221.2:c.489-4833_489-4824del NM_001204221.2:c.489-4832_489-4824del NM_001204221.2:c.489-4831_489-4824del NM_001204221.2:c.489-4830_489-4824del NM_001204221.2:c.489-4829_489-4824del NM_001204221.2:c.489-4828_489-4824del NM_001204221.2:c.489-4827_489-4824del NM_001204221.2:c.489-4826_489-4824del NM_001204221.2:c.489-4825_489-4824del NM_001204221.2:c.489-4824del NM_001204221.2:c.489-4824dup NM_001204221.2:c.489-4825_489-4824dup NM_001204221.2:c.489-4826_489-4824dup NM_001204221.2:c.489-4827_489-4824dup NM_001204221.2:c.489-4828_489-4824dup NM_001204221.2:c.489-4829_489-4824dup NM_001204221.2:c.489-4830_489-4824dup NM_001204221.2:c.489-4836_489-4824dup
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#.

80 SubSNP, 47 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCMHGSC_JDW ss103502379 Mar 15, 2016 (147)
2 GMI ss288119084 May 04, 2012 (137)
3 1000GENOMES ss1368078818 Aug 21, 2014 (142)
4 EVA_GENOME_DK ss1575526779 Apr 01, 2015 (144)
5 EVA_UK10K_ALSPAC ss1702062291 Apr 01, 2015 (144)
6 EVA_UK10K_TWINSUK ss1702062570 Apr 01, 2015 (144)
7 EVA_UK10K_TWINSUK ss1709983635 Apr 01, 2015 (144)
8 EVA_UK10K_TWINSUK ss1709983636 Apr 01, 2015 (144)
9 EVA_UK10K_ALSPAC ss1709983647 Apr 01, 2015 (144)
10 EVA_UK10K_ALSPAC ss1709983649 Apr 01, 2015 (144)
11 SYSTEMSBIOZJU ss2624679420 Nov 08, 2017 (151)
12 SWEGEN ss2988812921 Nov 08, 2017 (151)
13 MCHAISSO ss3063635580 Nov 08, 2017 (151)
14 MCHAISSO ss3064454715 Nov 08, 2017 (151)
15 MCHAISSO ss3065361544 Nov 08, 2017 (151)
16 URBANLAB ss3646939000 Oct 11, 2018 (152)
17 EVA_DECODE ss3689064803 Jul 12, 2019 (153)
18 EVA_DECODE ss3689064804 Jul 12, 2019 (153)
19 EVA_DECODE ss3689064805 Jul 12, 2019 (153)
20 EVA_DECODE ss3689064806 Jul 12, 2019 (153)
21 EVA_DECODE ss3689064807 Jul 12, 2019 (153)
22 EVA_DECODE ss3689064808 Jul 12, 2019 (153)
23 ACPOP ss3728061179 Jul 12, 2019 (153)
24 ACPOP ss3728061180 Jul 12, 2019 (153)
25 ACPOP ss3728061181 Jul 12, 2019 (153)
26 ACPOP ss3728061182 Jul 12, 2019 (153)
27 ACPOP ss3728061183 Jul 12, 2019 (153)
28 PACBIO ss3783750522 Jul 12, 2019 (153)
29 PACBIO ss3789353785 Jul 12, 2019 (153)
30 PACBIO ss3794226352 Jul 12, 2019 (153)
31 KHV_HUMAN_GENOMES ss3800612715 Jul 12, 2019 (153)
32 EVA ss3826763543 Apr 25, 2020 (154)
33 GNOMAD ss4014964007 Apr 25, 2021 (155)
34 GNOMAD ss4014964008 Apr 25, 2021 (155)
35 GNOMAD ss4014964009 Apr 25, 2021 (155)
36 GNOMAD ss4014964010 Apr 25, 2021 (155)
37 GNOMAD ss4014964011 Apr 25, 2021 (155)
38 GNOMAD ss4014964012 Apr 25, 2021 (155)
39 GNOMAD ss4014964013 Apr 25, 2021 (155)
40 GNOMAD ss4014964015 Apr 25, 2021 (155)
41 GNOMAD ss4014964016 Apr 25, 2021 (155)
42 GNOMAD ss4014964017 Apr 25, 2021 (155)
43 GNOMAD ss4014964018 Apr 25, 2021 (155)
44 GNOMAD ss4014964019 Apr 25, 2021 (155)
45 GNOMAD ss4014964020 Apr 25, 2021 (155)
46 GNOMAD ss4014964021 Apr 25, 2021 (155)
47 GNOMAD ss4014964022 Apr 25, 2021 (155)
48 GNOMAD ss4014964023 Apr 25, 2021 (155)
49 GNOMAD ss4014964024 Apr 25, 2021 (155)
50 GNOMAD ss4014964025 Apr 25, 2021 (155)
51 GNOMAD ss4014964026 Apr 25, 2021 (155)
52 GNOMAD ss4014964027 Apr 25, 2021 (155)
53 GNOMAD ss4014964028 Apr 25, 2021 (155)
54 GNOMAD ss4014964029 Apr 25, 2021 (155)
55 TOMMO_GENOMICS ss5149424934 Apr 25, 2021 (155)
56 TOMMO_GENOMICS ss5149424935 Apr 25, 2021 (155)
57 TOMMO_GENOMICS ss5149424936 Apr 25, 2021 (155)
58 TOMMO_GENOMICS ss5149424937 Apr 25, 2021 (155)
59 TOMMO_GENOMICS ss5149424938 Apr 25, 2021 (155)
60 TOMMO_GENOMICS ss5149424939 Apr 25, 2021 (155)
61 1000G_HIGH_COVERAGE ss5246560118 Oct 12, 2022 (156)
62 1000G_HIGH_COVERAGE ss5246560119 Oct 12, 2022 (156)
63 1000G_HIGH_COVERAGE ss5246560120 Oct 12, 2022 (156)
64 1000G_HIGH_COVERAGE ss5246560121 Oct 12, 2022 (156)
65 HUGCELL_USP ss5446919071 Oct 12, 2022 (156)
66 HUGCELL_USP ss5446919072 Oct 12, 2022 (156)
67 HUGCELL_USP ss5446919073 Oct 12, 2022 (156)
68 HUGCELL_USP ss5446919074 Oct 12, 2022 (156)
69 HUGCELL_USP ss5446919075 Oct 12, 2022 (156)
70 HUGCELL_USP ss5446919076 Oct 12, 2022 (156)
71 TOMMO_GENOMICS ss5677472439 Oct 12, 2022 (156)
72 TOMMO_GENOMICS ss5677472440 Oct 12, 2022 (156)
73 TOMMO_GENOMICS ss5677472441 Oct 12, 2022 (156)
74 TOMMO_GENOMICS ss5677472442 Oct 12, 2022 (156)
75 TOMMO_GENOMICS ss5677472443 Oct 12, 2022 (156)
76 EVA ss5833574254 Oct 12, 2022 (156)
77 EVA ss5833574255 Oct 12, 2022 (156)
78 EVA ss5833574256 Oct 12, 2022 (156)
79 EVA ss5849386716 Oct 12, 2022 (156)
80 EVA ss5980030321 Oct 12, 2022 (156)
81 1000Genomes NC_000001.10 - 247113953 Oct 11, 2018 (152)
82 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 3545414 (NC_000001.10:247113952:AAAAAAAAAAAAA: 1242/3854)
Row 3545415 (NC_000001.10:247113956:AAAAA: 1474/3854)
Row 3545416 (NC_000001.10:247113957:AAA: 1027/3854)

- Oct 11, 2018 (152)
83 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 3545414 (NC_000001.10:247113952:AAAAAAAAAAAAA: 1242/3854)
Row 3545415 (NC_000001.10:247113956:AAAAA: 1474/3854)
Row 3545416 (NC_000001.10:247113957:AAA: 1027/3854)

- Oct 11, 2018 (152)
84 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 3545414 (NC_000001.10:247113952:AAAAAAAAAAAAA: 1242/3854)
Row 3545415 (NC_000001.10:247113956:AAAAA: 1474/3854)
Row 3545416 (NC_000001.10:247113957:AAA: 1027/3854)

- Oct 11, 2018 (152)
85 The Danish reference pan genome NC_000001.10 - 247113953 Apr 25, 2020 (154)
86 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 45730612 (NC_000001.11:246950650::A 25825/96866)
Row 45730613 (NC_000001.11:246950650::AA 2693/97694)
Row 45730614 (NC_000001.11:246950650::AAA 64/97890)...

- Apr 25, 2021 (155)
87 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 45730612 (NC_000001.11:246950650::A 25825/96866)
Row 45730613 (NC_000001.11:246950650::AA 2693/97694)
Row 45730614 (NC_000001.11:246950650::AAA 64/97890)...

- Apr 25, 2021 (155)
88 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 45730612 (NC_000001.11:246950650::A 25825/96866)
Row 45730613 (NC_000001.11:246950650::AA 2693/97694)
Row 45730614 (NC_000001.11:246950650::AAA 64/97890)...

- Apr 25, 2021 (155)
89 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 45730612 (NC_000001.11:246950650::A 25825/96866)
Row 45730613 (NC_000001.11:246950650::AA 2693/97694)
Row 45730614 (NC_000001.11:246950650::AAA 64/97890)...

- Apr 25, 2021 (155)
90 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 45730612 (NC_000001.11:246950650::A 25825/96866)
Row 45730613 (NC_000001.11:246950650::AA 2693/97694)
Row 45730614 (NC_000001.11:246950650::AAA 64/97890)...

- Apr 25, 2021 (155)
91 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 45730612 (NC_000001.11:246950650::A 25825/96866)
Row 45730613 (NC_000001.11:246950650::AA 2693/97694)
Row 45730614 (NC_000001.11:246950650::AAA 64/97890)...

- Apr 25, 2021 (155)
92 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 45730612 (NC_000001.11:246950650::A 25825/96866)
Row 45730613 (NC_000001.11:246950650::AA 2693/97694)
Row 45730614 (NC_000001.11:246950650::AAA 64/97890)...

- Apr 25, 2021 (155)
93 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 45730612 (NC_000001.11:246950650::A 25825/96866)
Row 45730613 (NC_000001.11:246950650::AA 2693/97694)
Row 45730614 (NC_000001.11:246950650::AAA 64/97890)...

- Apr 25, 2021 (155)
94 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 45730612 (NC_000001.11:246950650::A 25825/96866)
Row 45730613 (NC_000001.11:246950650::AA 2693/97694)
Row 45730614 (NC_000001.11:246950650::AAA 64/97890)...

- Apr 25, 2021 (155)
95 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 45730612 (NC_000001.11:246950650::A 25825/96866)
Row 45730613 (NC_000001.11:246950650::AA 2693/97694)
Row 45730614 (NC_000001.11:246950650::AAA 64/97890)...

- Apr 25, 2021 (155)
96 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 45730612 (NC_000001.11:246950650::A 25825/96866)
Row 45730613 (NC_000001.11:246950650::AA 2693/97694)
Row 45730614 (NC_000001.11:246950650::AAA 64/97890)...

- Apr 25, 2021 (155)
97 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 45730612 (NC_000001.11:246950650::A 25825/96866)
Row 45730613 (NC_000001.11:246950650::AA 2693/97694)
Row 45730614 (NC_000001.11:246950650::AAA 64/97890)...

- Apr 25, 2021 (155)
98 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 45730612 (NC_000001.11:246950650::A 25825/96866)
Row 45730613 (NC_000001.11:246950650::AA 2693/97694)
Row 45730614 (NC_000001.11:246950650::AAA 64/97890)...

- Apr 25, 2021 (155)
99 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 45730612 (NC_000001.11:246950650::A 25825/96866)
Row 45730613 (NC_000001.11:246950650::AA 2693/97694)
Row 45730614 (NC_000001.11:246950650::AAA 64/97890)...

- Apr 25, 2021 (155)
100 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 45730612 (NC_000001.11:246950650::A 25825/96866)
Row 45730613 (NC_000001.11:246950650::AA 2693/97694)
Row 45730614 (NC_000001.11:246950650::AAA 64/97890)...

- Apr 25, 2021 (155)
101 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 45730612 (NC_000001.11:246950650::A 25825/96866)
Row 45730613 (NC_000001.11:246950650::AA 2693/97694)
Row 45730614 (NC_000001.11:246950650::AAA 64/97890)...

- Apr 25, 2021 (155)
102 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 45730612 (NC_000001.11:246950650::A 25825/96866)
Row 45730613 (NC_000001.11:246950650::AA 2693/97694)
Row 45730614 (NC_000001.11:246950650::AAA 64/97890)...

- Apr 25, 2021 (155)
103 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 45730612 (NC_000001.11:246950650::A 25825/96866)
Row 45730613 (NC_000001.11:246950650::AA 2693/97694)
Row 45730614 (NC_000001.11:246950650::AAA 64/97890)...

- Apr 25, 2021 (155)
104 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 45730612 (NC_000001.11:246950650::A 25825/96866)
Row 45730613 (NC_000001.11:246950650::AA 2693/97694)
Row 45730614 (NC_000001.11:246950650::AAA 64/97890)...

- Apr 25, 2021 (155)
105 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 45730612 (NC_000001.11:246950650::A 25825/96866)
Row 45730613 (NC_000001.11:246950650::AA 2693/97694)
Row 45730614 (NC_000001.11:246950650::AAA 64/97890)...

- Apr 25, 2021 (155)
106 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 45730612 (NC_000001.11:246950650::A 25825/96866)
Row 45730613 (NC_000001.11:246950650::AA 2693/97694)
Row 45730614 (NC_000001.11:246950650::AAA 64/97890)...

- Apr 25, 2021 (155)
107 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 45730612 (NC_000001.11:246950650::A 25825/96866)
Row 45730613 (NC_000001.11:246950650::AA 2693/97694)
Row 45730614 (NC_000001.11:246950650::AAA 64/97890)...

- Apr 25, 2021 (155)
108 Northern Sweden

Submission ignored due to conflicting rows:
Row 1346044 (NC_000001.10:247113952::A 122/560)
Row 1346045 (NC_000001.10:247113952:AAAAAAAA: 75/560)
Row 1346046 (NC_000001.10:247113952:AAAAAAAAAAAAA: 50/560)...

- Jul 12, 2019 (153)
109 Northern Sweden

Submission ignored due to conflicting rows:
Row 1346044 (NC_000001.10:247113952::A 122/560)
Row 1346045 (NC_000001.10:247113952:AAAAAAAA: 75/560)
Row 1346046 (NC_000001.10:247113952:AAAAAAAAAAAAA: 50/560)...

- Jul 12, 2019 (153)
110 Northern Sweden

Submission ignored due to conflicting rows:
Row 1346044 (NC_000001.10:247113952::A 122/560)
Row 1346045 (NC_000001.10:247113952:AAAAAAAA: 75/560)
Row 1346046 (NC_000001.10:247113952:AAAAAAAAAAAAA: 50/560)...

- Jul 12, 2019 (153)
111 Northern Sweden

Submission ignored due to conflicting rows:
Row 1346044 (NC_000001.10:247113952::A 122/560)
Row 1346045 (NC_000001.10:247113952:AAAAAAAA: 75/560)
Row 1346046 (NC_000001.10:247113952:AAAAAAAAAAAAA: 50/560)...

- Jul 12, 2019 (153)
112 Northern Sweden

Submission ignored due to conflicting rows:
Row 1346044 (NC_000001.10:247113952::A 122/560)
Row 1346045 (NC_000001.10:247113952:AAAAAAAA: 75/560)
Row 1346046 (NC_000001.10:247113952:AAAAAAAAAAAAA: 50/560)...

- Jul 12, 2019 (153)
113 8.3KJPN

Submission ignored due to conflicting rows:
Row 7394241 (NC_000001.10:247113952:AAAAAAAA: 6769/15436)
Row 7394242 (NC_000001.10:247113952::A 3187/15436)
Row 7394243 (NC_000001.10:247113952:AAAAAAA: 47/15436)...

- Apr 25, 2021 (155)
114 8.3KJPN

Submission ignored due to conflicting rows:
Row 7394241 (NC_000001.10:247113952:AAAAAAAA: 6769/15436)
Row 7394242 (NC_000001.10:247113952::A 3187/15436)
Row 7394243 (NC_000001.10:247113952:AAAAAAA: 47/15436)...

- Apr 25, 2021 (155)
115 8.3KJPN

Submission ignored due to conflicting rows:
Row 7394241 (NC_000001.10:247113952:AAAAAAAA: 6769/15436)
Row 7394242 (NC_000001.10:247113952::A 3187/15436)
Row 7394243 (NC_000001.10:247113952:AAAAAAA: 47/15436)...

- Apr 25, 2021 (155)
116 8.3KJPN

Submission ignored due to conflicting rows:
Row 7394241 (NC_000001.10:247113952:AAAAAAAA: 6769/15436)
Row 7394242 (NC_000001.10:247113952::A 3187/15436)
Row 7394243 (NC_000001.10:247113952:AAAAAAA: 47/15436)...

- Apr 25, 2021 (155)
117 8.3KJPN

Submission ignored due to conflicting rows:
Row 7394241 (NC_000001.10:247113952:AAAAAAAA: 6769/15436)
Row 7394242 (NC_000001.10:247113952::A 3187/15436)
Row 7394243 (NC_000001.10:247113952:AAAAAAA: 47/15436)...

- Apr 25, 2021 (155)
118 8.3KJPN

Submission ignored due to conflicting rows:
Row 7394241 (NC_000001.10:247113952:AAAAAAAA: 6769/15436)
Row 7394242 (NC_000001.10:247113952::A 3187/15436)
Row 7394243 (NC_000001.10:247113952:AAAAAAA: 47/15436)...

- Apr 25, 2021 (155)
119 14KJPN

Submission ignored due to conflicting rows:
Row 11309543 (NC_000001.11:246950650:AAAAAAAA: 12687/27020)
Row 11309544 (NC_000001.11:246950650::A 5911/27020)
Row 11309545 (NC_000001.11:246950650:AAAAAAA: 84/27020)...

- Oct 12, 2022 (156)
120 14KJPN

Submission ignored due to conflicting rows:
Row 11309543 (NC_000001.11:246950650:AAAAAAAA: 12687/27020)
Row 11309544 (NC_000001.11:246950650::A 5911/27020)
Row 11309545 (NC_000001.11:246950650:AAAAAAA: 84/27020)...

- Oct 12, 2022 (156)
121 14KJPN

Submission ignored due to conflicting rows:
Row 11309543 (NC_000001.11:246950650:AAAAAAAA: 12687/27020)
Row 11309544 (NC_000001.11:246950650::A 5911/27020)
Row 11309545 (NC_000001.11:246950650:AAAAAAA: 84/27020)...

- Oct 12, 2022 (156)
122 14KJPN

Submission ignored due to conflicting rows:
Row 11309543 (NC_000001.11:246950650:AAAAAAAA: 12687/27020)
Row 11309544 (NC_000001.11:246950650::A 5911/27020)
Row 11309545 (NC_000001.11:246950650:AAAAAAA: 84/27020)...

- Oct 12, 2022 (156)
123 14KJPN

Submission ignored due to conflicting rows:
Row 11309543 (NC_000001.11:246950650:AAAAAAAA: 12687/27020)
Row 11309544 (NC_000001.11:246950650::A 5911/27020)
Row 11309545 (NC_000001.11:246950650:AAAAAAA: 84/27020)...

- Oct 12, 2022 (156)
124 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 3545414 (NC_000001.10:247113952:AAAAAAAAAAAAA: 1135/3708)
Row 3545415 (NC_000001.10:247113956:AAAAA: 1423/3708)
Row 3545416 (NC_000001.10:247113957:AAA: 1062/3708)

- Oct 11, 2018 (152)
125 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 3545414 (NC_000001.10:247113952:AAAAAAAAAAAAA: 1135/3708)
Row 3545415 (NC_000001.10:247113956:AAAAA: 1423/3708)
Row 3545416 (NC_000001.10:247113957:AAA: 1062/3708)

- Oct 11, 2018 (152)
126 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 3545414 (NC_000001.10:247113952:AAAAAAAAAAAAA: 1135/3708)
Row 3545415 (NC_000001.10:247113956:AAAAA: 1423/3708)
Row 3545416 (NC_000001.10:247113957:AAA: 1062/3708)

- Oct 11, 2018 (152)
127 ALFA NC_000001.11 - 246950651 Apr 25, 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).

Associated ID History Updated (Build)
rs74869895 May 11, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4014964029 NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAA:

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
ss4014964028 NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAA:

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
1069425038 NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss4014964027 NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAA:

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
1069425038 NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4014964026 NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAA:

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
1069425038 NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
9305, ss1575526779, ss1702062291, ss1702062570, ss2988812921, ss3728061181, ss5833574255, ss5980030321 NC_000001.10:247113952:AAAAAAAAAAA…

NC_000001.10:247113952:AAAAAAAAAAAAA:

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3689064808, ss4014964025, ss5246560120, ss5446919071 NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAA:

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
1069425038 NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3064454715, ss4014964024 NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAA:

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
1069425038 NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4014964023 NC_000001.11:246950650:AAAAAAAAAAA: NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
1069425038 NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4014964022 NC_000001.11:246950650:AAAAAAAAAA: NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
1069425038 NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3728061183, ss5149424937, ss5833574256 NC_000001.10:247113952:AAAAAAAAA: NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss1709983635, ss1709983647 NC_000001.10:247113956:AAAAAAAAA: NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3646939000, ss4014964021, ss5246560121, ss5446919076, ss5849386716 NC_000001.11:246950650:AAAAAAAAA: NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
1069425038 NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3689064807 NC_000001.11:246950654:AAAAAAAAA: NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss288119084 NC_000001.9:245180575:AAAAAAAA: NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
6401321, ss1368078818, ss2624679420, ss3728061180, ss5149424934, ss5833574254 NC_000001.10:247113952:AAAAAAAA: NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss1709983636, ss1709983649 NC_000001.10:247113957:AAAAAAAA: NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3063635580, ss3800612715, ss4014964020, ss5246560118, ss5446919072, ss5677472439 NC_000001.11:246950650:AAAAAAAA: NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
1069425038 NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3689064806 NC_000001.11:246950655:AAAAAAAA: NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss5149424936 NC_000001.10:247113952:AAAAAAA: NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4014964019, ss5446919074, ss5677472441 NC_000001.11:246950650:AAAAAAA: NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
1069425038 NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3689064805 NC_000001.11:246950656:AAAAAAA: NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3065361544, ss4014964018 NC_000001.11:246950650:AAAAAA: NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
1069425038 NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
NC_000001.10:247113956:AAAAA: NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4014964017 NC_000001.11:246950650:AAAAA: NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
1069425038 NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4014964016 NC_000001.11:246950650:AAAA: NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
1069425038 NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
NC_000001.10:247113957:AAA: NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4014964015 NC_000001.11:246950650:AAA: NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
1069425038 NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3826763543, ss5149424939 NC_000001.10:247113952:AA: NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5246560119, ss5446919075, ss5677472442 NC_000001.11:246950650:AA: NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
1069425038 NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
1069425038 NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss103502379 NT_167186.1:40631757:A: NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3728061179, ss3783750522, ss3789353785, ss3794226352, ss5149424935 NC_000001.10:247113952::A NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4014964007, ss5446919073, ss5677472440 NC_000001.11:246950650::A NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
1069425038 NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3689064804 NC_000001.11:246950663::A NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3728061182, ss5149424938 NC_000001.10:247113952::AA NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4014964008, ss5677472443 NC_000001.11:246950650::AA NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
1069425038 NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3689064803 NC_000001.11:246950663::AA NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4014964009 NC_000001.11:246950650::AAA NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
1069425038 NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4014964010 NC_000001.11:246950650::AAAA NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
1069425038 NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4014964011 NC_000001.11:246950650::AAAAA NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
1069425038 NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4014964012 NC_000001.11:246950650::AAAAAA NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
1069425038 NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4014964013 NC_000001.11:246950650::AAAAAAA NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss103502379 NT_167186.1:40631757:A:AAAAAAAAAAA…

NT_167186.1:40631757:A:AAAAAAAAAAAAAA

NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3108929959 NC_000001.11:246950650:A: NC_000001.11:246950650:AAAAAAAAAAA…

NC_000001.11:246950650:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

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 rs200143022

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