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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.

rs746043747

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr19:21049174-21049197 (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)13 / del(A)12 / del(A)11 / d…

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)8 / dup(A)9 / dup(A)10 / dup(A)11 / dup(A)12 / dup(A)13 / dup(A)14 / dup(A)18 / dup(A)19 / ins(A)32 / insAAT(A)26

Variation Type
Indel Insertion and Deletion
Frequency
del(A)12=0.0000 (0/1142, ALFA)
del(A)11=0.0000 (0/1142, ALFA)
del(A)10=0.0000 (0/1142, ALFA) (+ 15 more)
del(A)9=0.0000 (0/1142, ALFA)
del(A)8=0.0000 (0/1142, ALFA)
del(A)7=0.0000 (0/1142, ALFA)
del(A)6=0.0000 (0/1142, ALFA)
del(A)5=0.0000 (0/1142, ALFA)
del(A)4=0.0000 (0/1142, ALFA)
delAAA=0.0000 (0/1142, ALFA)
delAA=0.0000 (0/1142, ALFA)
delA=0.0000 (0/1142, ALFA)
dupA=0.0000 (0/1142, ALFA)
dupAA=0.0000 (0/1142, ALFA)
dupAAA=0.0000 (0/1142, ALFA)
dup(A)4=0.0000 (0/1142, ALFA)
dup(A)5=0.0000 (0/1142, ALFA)
dup(A)6=0.0000 (0/1142, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ZNF430 : 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 1142 AAAAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 152 AAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Sub 900 AAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 36 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 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, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 864 AAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 4 AAAAAAAAAAAAAAAAAAAAAAAA=1.0 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, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
East Asian Sub 4 AAAAAAAAAAAAAAAAAAAAAAAA=1.0 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, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 0 AAAAAAAAAAAAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Latin American 1 Sub 12 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 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, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 30 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 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, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
South Asian Sub 2 AAAAAAAAAAAAAAAAAAAAAAAA=1.0 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, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Sub 42 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 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, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=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 1142 (A)24=1.0000 del(A)12=0.0000, del(A)11=0.0000, del(A)10=0.0000, del(A)9=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, dupAAA=0.0000, dup(A)4=0.0000, dup(A)5=0.0000, dup(A)6=0.0000
Allele Frequency Aggregator African Sub 900 (A)24=1.000 del(A)12=0.000, del(A)11=0.000, del(A)10=0.000, del(A)9=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, dupAAA=0.000, dup(A)4=0.000, dup(A)5=0.000, dup(A)6=0.000
Allele Frequency Aggregator European Sub 152 (A)24=1.000 del(A)12=0.000, del(A)11=0.000, del(A)10=0.000, del(A)9=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, dupAAA=0.000, dup(A)4=0.000, dup(A)5=0.000, dup(A)6=0.000
Allele Frequency Aggregator Other Sub 42 (A)24=1.00 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 30 (A)24=1.00 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 1 Sub 12 (A)24=1.00 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 Asian Sub 4 (A)24=1.0 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 South Asian Sub 2 (A)24=1.0 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
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 19 NC_000019.10:g.21049185_21049197del
GRCh38.p14 chr 19 NC_000019.10:g.21049186_21049197del
GRCh38.p14 chr 19 NC_000019.10:g.21049187_21049197del
GRCh38.p14 chr 19 NC_000019.10:g.21049188_21049197del
GRCh38.p14 chr 19 NC_000019.10:g.21049189_21049197del
GRCh38.p14 chr 19 NC_000019.10:g.21049190_21049197del
GRCh38.p14 chr 19 NC_000019.10:g.21049191_21049197del
GRCh38.p14 chr 19 NC_000019.10:g.21049192_21049197del
GRCh38.p14 chr 19 NC_000019.10:g.21049193_21049197del
GRCh38.p14 chr 19 NC_000019.10:g.21049194_21049197del
GRCh38.p14 chr 19 NC_000019.10:g.21049195_21049197del
GRCh38.p14 chr 19 NC_000019.10:g.21049196_21049197del
GRCh38.p14 chr 19 NC_000019.10:g.21049197del
GRCh38.p14 chr 19 NC_000019.10:g.21049197dup
GRCh38.p14 chr 19 NC_000019.10:g.21049196_21049197dup
GRCh38.p14 chr 19 NC_000019.10:g.21049195_21049197dup
GRCh38.p14 chr 19 NC_000019.10:g.21049194_21049197dup
GRCh38.p14 chr 19 NC_000019.10:g.21049193_21049197dup
GRCh38.p14 chr 19 NC_000019.10:g.21049192_21049197dup
GRCh38.p14 chr 19 NC_000019.10:g.21049191_21049197dup
GRCh38.p14 chr 19 NC_000019.10:g.21049190_21049197dup
GRCh38.p14 chr 19 NC_000019.10:g.21049189_21049197dup
GRCh38.p14 chr 19 NC_000019.10:g.21049188_21049197dup
GRCh38.p14 chr 19 NC_000019.10:g.21049187_21049197dup
GRCh38.p14 chr 19 NC_000019.10:g.21049186_21049197dup
GRCh38.p14 chr 19 NC_000019.10:g.21049185_21049197dup
GRCh38.p14 chr 19 NC_000019.10:g.21049184_21049197dup
GRCh38.p14 chr 19 NC_000019.10:g.21049180_21049197dup
GRCh38.p14 chr 19 NC_000019.10:g.21049179_21049197dup
GRCh38.p14 chr 19 NC_000019.10:g.21049197_21049198insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 19 NC_000019.10:g.21049174_21049197A[26]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 19 NC_000019.9:g.21231991_21232003del
GRCh37.p13 chr 19 NC_000019.9:g.21231992_21232003del
GRCh37.p13 chr 19 NC_000019.9:g.21231993_21232003del
GRCh37.p13 chr 19 NC_000019.9:g.21231994_21232003del
GRCh37.p13 chr 19 NC_000019.9:g.21231995_21232003del
GRCh37.p13 chr 19 NC_000019.9:g.21231996_21232003del
GRCh37.p13 chr 19 NC_000019.9:g.21231997_21232003del
GRCh37.p13 chr 19 NC_000019.9:g.21231998_21232003del
GRCh37.p13 chr 19 NC_000019.9:g.21231999_21232003del
GRCh37.p13 chr 19 NC_000019.9:g.21232000_21232003del
GRCh37.p13 chr 19 NC_000019.9:g.21232001_21232003del
GRCh37.p13 chr 19 NC_000019.9:g.21232002_21232003del
GRCh37.p13 chr 19 NC_000019.9:g.21232003del
GRCh37.p13 chr 19 NC_000019.9:g.21232003dup
GRCh37.p13 chr 19 NC_000019.9:g.21232002_21232003dup
GRCh37.p13 chr 19 NC_000019.9:g.21232001_21232003dup
GRCh37.p13 chr 19 NC_000019.9:g.21232000_21232003dup
GRCh37.p13 chr 19 NC_000019.9:g.21231999_21232003dup
GRCh37.p13 chr 19 NC_000019.9:g.21231998_21232003dup
GRCh37.p13 chr 19 NC_000019.9:g.21231997_21232003dup
GRCh37.p13 chr 19 NC_000019.9:g.21231996_21232003dup
GRCh37.p13 chr 19 NC_000019.9:g.21231995_21232003dup
GRCh37.p13 chr 19 NC_000019.9:g.21231994_21232003dup
GRCh37.p13 chr 19 NC_000019.9:g.21231993_21232003dup
GRCh37.p13 chr 19 NC_000019.9:g.21231992_21232003dup
GRCh37.p13 chr 19 NC_000019.9:g.21231991_21232003dup
GRCh37.p13 chr 19 NC_000019.9:g.21231990_21232003dup
GRCh37.p13 chr 19 NC_000019.9:g.21231986_21232003dup
GRCh37.p13 chr 19 NC_000019.9:g.21231985_21232003dup
GRCh37.p13 chr 19 NC_000019.9:g.21232003_21232004insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 19 NC_000019.9:g.21231980_21232003A[26]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
Gene: ZNF430, zinc finger protein 430 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ZNF430 transcript variant 2 NM_001172671.2:c.320-7446…

NM_001172671.2:c.320-7446_320-7434del

N/A Intron Variant
ZNF430 transcript variant 1 NM_025189.4:c.323-7446_32…

NM_025189.4:c.323-7446_323-7434del

N/A Intron Variant
ZNF430 transcript variant X1 XM_047439464.1:c.230-7446…

XM_047439464.1:c.230-7446_230-7434del

N/A Intron Variant
ZNF430 transcript variant X2 XM_047439465.1:c.227-7446…

XM_047439465.1:c.227-7446_227-7434del

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)24= 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)8 dup(A)9 dup(A)10 dup(A)11 dup(A)12 dup(A)13 dup(A)14 dup(A)18 dup(A)19 ins(A)32 insAAT(A)26
GRCh38.p14 chr 19 NC_000019.10:g.21049174_21049197= NC_000019.10:g.21049185_21049197del NC_000019.10:g.21049186_21049197del NC_000019.10:g.21049187_21049197del NC_000019.10:g.21049188_21049197del NC_000019.10:g.21049189_21049197del NC_000019.10:g.21049190_21049197del NC_000019.10:g.21049191_21049197del NC_000019.10:g.21049192_21049197del NC_000019.10:g.21049193_21049197del NC_000019.10:g.21049194_21049197del NC_000019.10:g.21049195_21049197del NC_000019.10:g.21049196_21049197del NC_000019.10:g.21049197del NC_000019.10:g.21049197dup NC_000019.10:g.21049196_21049197dup NC_000019.10:g.21049195_21049197dup NC_000019.10:g.21049194_21049197dup NC_000019.10:g.21049193_21049197dup NC_000019.10:g.21049192_21049197dup NC_000019.10:g.21049191_21049197dup NC_000019.10:g.21049190_21049197dup NC_000019.10:g.21049189_21049197dup NC_000019.10:g.21049188_21049197dup NC_000019.10:g.21049187_21049197dup NC_000019.10:g.21049186_21049197dup NC_000019.10:g.21049185_21049197dup NC_000019.10:g.21049184_21049197dup NC_000019.10:g.21049180_21049197dup NC_000019.10:g.21049179_21049197dup NC_000019.10:g.21049197_21049198insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000019.10:g.21049174_21049197A[26]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 19 NC_000019.9:g.21231980_21232003= NC_000019.9:g.21231991_21232003del NC_000019.9:g.21231992_21232003del NC_000019.9:g.21231993_21232003del NC_000019.9:g.21231994_21232003del NC_000019.9:g.21231995_21232003del NC_000019.9:g.21231996_21232003del NC_000019.9:g.21231997_21232003del NC_000019.9:g.21231998_21232003del NC_000019.9:g.21231999_21232003del NC_000019.9:g.21232000_21232003del NC_000019.9:g.21232001_21232003del NC_000019.9:g.21232002_21232003del NC_000019.9:g.21232003del NC_000019.9:g.21232003dup NC_000019.9:g.21232002_21232003dup NC_000019.9:g.21232001_21232003dup NC_000019.9:g.21232000_21232003dup NC_000019.9:g.21231999_21232003dup NC_000019.9:g.21231998_21232003dup NC_000019.9:g.21231997_21232003dup NC_000019.9:g.21231996_21232003dup NC_000019.9:g.21231995_21232003dup NC_000019.9:g.21231994_21232003dup NC_000019.9:g.21231993_21232003dup NC_000019.9:g.21231992_21232003dup NC_000019.9:g.21231991_21232003dup NC_000019.9:g.21231990_21232003dup NC_000019.9:g.21231986_21232003dup NC_000019.9:g.21231985_21232003dup NC_000019.9:g.21232003_21232004insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000019.9:g.21231980_21232003A[26]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
ZNF430 transcript variant 2 NM_001172671.1:c.320-7457= NM_001172671.1:c.320-7446_320-7434del NM_001172671.1:c.320-7445_320-7434del NM_001172671.1:c.320-7444_320-7434del NM_001172671.1:c.320-7443_320-7434del NM_001172671.1:c.320-7442_320-7434del NM_001172671.1:c.320-7441_320-7434del NM_001172671.1:c.320-7440_320-7434del NM_001172671.1:c.320-7439_320-7434del NM_001172671.1:c.320-7438_320-7434del NM_001172671.1:c.320-7437_320-7434del NM_001172671.1:c.320-7436_320-7434del NM_001172671.1:c.320-7435_320-7434del NM_001172671.1:c.320-7434del NM_001172671.1:c.320-7434dup NM_001172671.1:c.320-7435_320-7434dup NM_001172671.1:c.320-7436_320-7434dup NM_001172671.1:c.320-7437_320-7434dup NM_001172671.1:c.320-7438_320-7434dup NM_001172671.1:c.320-7439_320-7434dup NM_001172671.1:c.320-7440_320-7434dup NM_001172671.1:c.320-7441_320-7434dup NM_001172671.1:c.320-7442_320-7434dup NM_001172671.1:c.320-7443_320-7434dup NM_001172671.1:c.320-7444_320-7434dup NM_001172671.1:c.320-7445_320-7434dup NM_001172671.1:c.320-7446_320-7434dup NM_001172671.1:c.320-7447_320-7434dup NM_001172671.1:c.320-7451_320-7434dup NM_001172671.1:c.320-7452_320-7434dup NM_001172671.1:c.320-7434_320-7433insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001172671.1:c.320-7434_320-7433insAATAAAAAAAAAAAAAAAAAAAAAAAAAA
ZNF430 transcript variant 2 NM_001172671.2:c.320-7457= NM_001172671.2:c.320-7446_320-7434del NM_001172671.2:c.320-7445_320-7434del NM_001172671.2:c.320-7444_320-7434del NM_001172671.2:c.320-7443_320-7434del NM_001172671.2:c.320-7442_320-7434del NM_001172671.2:c.320-7441_320-7434del NM_001172671.2:c.320-7440_320-7434del NM_001172671.2:c.320-7439_320-7434del NM_001172671.2:c.320-7438_320-7434del NM_001172671.2:c.320-7437_320-7434del NM_001172671.2:c.320-7436_320-7434del NM_001172671.2:c.320-7435_320-7434del NM_001172671.2:c.320-7434del NM_001172671.2:c.320-7434dup NM_001172671.2:c.320-7435_320-7434dup NM_001172671.2:c.320-7436_320-7434dup NM_001172671.2:c.320-7437_320-7434dup NM_001172671.2:c.320-7438_320-7434dup NM_001172671.2:c.320-7439_320-7434dup NM_001172671.2:c.320-7440_320-7434dup NM_001172671.2:c.320-7441_320-7434dup NM_001172671.2:c.320-7442_320-7434dup NM_001172671.2:c.320-7443_320-7434dup NM_001172671.2:c.320-7444_320-7434dup NM_001172671.2:c.320-7445_320-7434dup NM_001172671.2:c.320-7446_320-7434dup NM_001172671.2:c.320-7447_320-7434dup NM_001172671.2:c.320-7451_320-7434dup NM_001172671.2:c.320-7452_320-7434dup NM_001172671.2:c.320-7434_320-7433insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001172671.2:c.320-7434_320-7433insAATAAAAAAAAAAAAAAAAAAAAAAAAAA
ZNF430 transcript variant 1 NM_025189.3:c.323-7457= NM_025189.3:c.323-7446_323-7434del NM_025189.3:c.323-7445_323-7434del NM_025189.3:c.323-7444_323-7434del NM_025189.3:c.323-7443_323-7434del NM_025189.3:c.323-7442_323-7434del NM_025189.3:c.323-7441_323-7434del NM_025189.3:c.323-7440_323-7434del NM_025189.3:c.323-7439_323-7434del NM_025189.3:c.323-7438_323-7434del NM_025189.3:c.323-7437_323-7434del NM_025189.3:c.323-7436_323-7434del NM_025189.3:c.323-7435_323-7434del NM_025189.3:c.323-7434del NM_025189.3:c.323-7434dup NM_025189.3:c.323-7435_323-7434dup NM_025189.3:c.323-7436_323-7434dup NM_025189.3:c.323-7437_323-7434dup NM_025189.3:c.323-7438_323-7434dup NM_025189.3:c.323-7439_323-7434dup NM_025189.3:c.323-7440_323-7434dup NM_025189.3:c.323-7441_323-7434dup NM_025189.3:c.323-7442_323-7434dup NM_025189.3:c.323-7443_323-7434dup NM_025189.3:c.323-7444_323-7434dup NM_025189.3:c.323-7445_323-7434dup NM_025189.3:c.323-7446_323-7434dup NM_025189.3:c.323-7447_323-7434dup NM_025189.3:c.323-7451_323-7434dup NM_025189.3:c.323-7452_323-7434dup NM_025189.3:c.323-7434_323-7433insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_025189.3:c.323-7434_323-7433insAATAAAAAAAAAAAAAAAAAAAAAAAAAA
ZNF430 transcript variant 1 NM_025189.4:c.323-7457= NM_025189.4:c.323-7446_323-7434del NM_025189.4:c.323-7445_323-7434del NM_025189.4:c.323-7444_323-7434del NM_025189.4:c.323-7443_323-7434del NM_025189.4:c.323-7442_323-7434del NM_025189.4:c.323-7441_323-7434del NM_025189.4:c.323-7440_323-7434del NM_025189.4:c.323-7439_323-7434del NM_025189.4:c.323-7438_323-7434del NM_025189.4:c.323-7437_323-7434del NM_025189.4:c.323-7436_323-7434del NM_025189.4:c.323-7435_323-7434del NM_025189.4:c.323-7434del NM_025189.4:c.323-7434dup NM_025189.4:c.323-7435_323-7434dup NM_025189.4:c.323-7436_323-7434dup NM_025189.4:c.323-7437_323-7434dup NM_025189.4:c.323-7438_323-7434dup NM_025189.4:c.323-7439_323-7434dup NM_025189.4:c.323-7440_323-7434dup NM_025189.4:c.323-7441_323-7434dup NM_025189.4:c.323-7442_323-7434dup NM_025189.4:c.323-7443_323-7434dup NM_025189.4:c.323-7444_323-7434dup NM_025189.4:c.323-7445_323-7434dup NM_025189.4:c.323-7446_323-7434dup NM_025189.4:c.323-7447_323-7434dup NM_025189.4:c.323-7451_323-7434dup NM_025189.4:c.323-7452_323-7434dup NM_025189.4:c.323-7434_323-7433insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_025189.4:c.323-7434_323-7433insAATAAAAAAAAAAAAAAAAAAAAAAAAAA
ZNF430 transcript variant X1 XM_005260081.1:c.230-7457= XM_005260081.1:c.230-7446_230-7434del XM_005260081.1:c.230-7445_230-7434del XM_005260081.1:c.230-7444_230-7434del XM_005260081.1:c.230-7443_230-7434del XM_005260081.1:c.230-7442_230-7434del XM_005260081.1:c.230-7441_230-7434del XM_005260081.1:c.230-7440_230-7434del XM_005260081.1:c.230-7439_230-7434del XM_005260081.1:c.230-7438_230-7434del XM_005260081.1:c.230-7437_230-7434del XM_005260081.1:c.230-7436_230-7434del XM_005260081.1:c.230-7435_230-7434del XM_005260081.1:c.230-7434del XM_005260081.1:c.230-7434dup XM_005260081.1:c.230-7435_230-7434dup XM_005260081.1:c.230-7436_230-7434dup XM_005260081.1:c.230-7437_230-7434dup XM_005260081.1:c.230-7438_230-7434dup XM_005260081.1:c.230-7439_230-7434dup XM_005260081.1:c.230-7440_230-7434dup XM_005260081.1:c.230-7441_230-7434dup XM_005260081.1:c.230-7442_230-7434dup XM_005260081.1:c.230-7443_230-7434dup XM_005260081.1:c.230-7444_230-7434dup XM_005260081.1:c.230-7445_230-7434dup XM_005260081.1:c.230-7446_230-7434dup XM_005260081.1:c.230-7447_230-7434dup XM_005260081.1:c.230-7451_230-7434dup XM_005260081.1:c.230-7452_230-7434dup XM_005260081.1:c.230-7434_230-7433insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_005260081.1:c.230-7434_230-7433insAATAAAAAAAAAAAAAAAAAAAAAAAAAA
ZNF430 transcript variant X2 XM_005260082.1:c.323-7457= XM_005260082.1:c.323-7446_323-7434del XM_005260082.1:c.323-7445_323-7434del XM_005260082.1:c.323-7444_323-7434del XM_005260082.1:c.323-7443_323-7434del XM_005260082.1:c.323-7442_323-7434del XM_005260082.1:c.323-7441_323-7434del XM_005260082.1:c.323-7440_323-7434del XM_005260082.1:c.323-7439_323-7434del XM_005260082.1:c.323-7438_323-7434del XM_005260082.1:c.323-7437_323-7434del XM_005260082.1:c.323-7436_323-7434del XM_005260082.1:c.323-7435_323-7434del XM_005260082.1:c.323-7434del XM_005260082.1:c.323-7434dup XM_005260082.1:c.323-7435_323-7434dup XM_005260082.1:c.323-7436_323-7434dup XM_005260082.1:c.323-7437_323-7434dup XM_005260082.1:c.323-7438_323-7434dup XM_005260082.1:c.323-7439_323-7434dup XM_005260082.1:c.323-7440_323-7434dup XM_005260082.1:c.323-7441_323-7434dup XM_005260082.1:c.323-7442_323-7434dup XM_005260082.1:c.323-7443_323-7434dup XM_005260082.1:c.323-7444_323-7434dup XM_005260082.1:c.323-7445_323-7434dup XM_005260082.1:c.323-7446_323-7434dup XM_005260082.1:c.323-7447_323-7434dup XM_005260082.1:c.323-7451_323-7434dup XM_005260082.1:c.323-7452_323-7434dup XM_005260082.1:c.323-7434_323-7433insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_005260082.1:c.323-7434_323-7433insAATAAAAAAAAAAAAAAAAAAAAAAAAAA
ZNF430 transcript variant X3 XM_005260083.1:c.323-7457= XM_005260083.1:c.323-7446_323-7434del XM_005260083.1:c.323-7445_323-7434del XM_005260083.1:c.323-7444_323-7434del XM_005260083.1:c.323-7443_323-7434del XM_005260083.1:c.323-7442_323-7434del XM_005260083.1:c.323-7441_323-7434del XM_005260083.1:c.323-7440_323-7434del XM_005260083.1:c.323-7439_323-7434del XM_005260083.1:c.323-7438_323-7434del XM_005260083.1:c.323-7437_323-7434del XM_005260083.1:c.323-7436_323-7434del XM_005260083.1:c.323-7435_323-7434del XM_005260083.1:c.323-7434del XM_005260083.1:c.323-7434dup XM_005260083.1:c.323-7435_323-7434dup XM_005260083.1:c.323-7436_323-7434dup XM_005260083.1:c.323-7437_323-7434dup XM_005260083.1:c.323-7438_323-7434dup XM_005260083.1:c.323-7439_323-7434dup XM_005260083.1:c.323-7440_323-7434dup XM_005260083.1:c.323-7441_323-7434dup XM_005260083.1:c.323-7442_323-7434dup XM_005260083.1:c.323-7443_323-7434dup XM_005260083.1:c.323-7444_323-7434dup XM_005260083.1:c.323-7445_323-7434dup XM_005260083.1:c.323-7446_323-7434dup XM_005260083.1:c.323-7447_323-7434dup XM_005260083.1:c.323-7451_323-7434dup XM_005260083.1:c.323-7452_323-7434dup XM_005260083.1:c.323-7434_323-7433insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_005260083.1:c.323-7434_323-7433insAATAAAAAAAAAAAAAAAAAAAAAAAAAA
ZNF430 transcript variant X1 XM_047439464.1:c.230-7457= XM_047439464.1:c.230-7446_230-7434del XM_047439464.1:c.230-7445_230-7434del XM_047439464.1:c.230-7444_230-7434del XM_047439464.1:c.230-7443_230-7434del XM_047439464.1:c.230-7442_230-7434del XM_047439464.1:c.230-7441_230-7434del XM_047439464.1:c.230-7440_230-7434del XM_047439464.1:c.230-7439_230-7434del XM_047439464.1:c.230-7438_230-7434del XM_047439464.1:c.230-7437_230-7434del XM_047439464.1:c.230-7436_230-7434del XM_047439464.1:c.230-7435_230-7434del XM_047439464.1:c.230-7434del XM_047439464.1:c.230-7434dup XM_047439464.1:c.230-7435_230-7434dup XM_047439464.1:c.230-7436_230-7434dup XM_047439464.1:c.230-7437_230-7434dup XM_047439464.1:c.230-7438_230-7434dup XM_047439464.1:c.230-7439_230-7434dup XM_047439464.1:c.230-7440_230-7434dup XM_047439464.1:c.230-7441_230-7434dup XM_047439464.1:c.230-7442_230-7434dup XM_047439464.1:c.230-7443_230-7434dup XM_047439464.1:c.230-7444_230-7434dup XM_047439464.1:c.230-7445_230-7434dup XM_047439464.1:c.230-7446_230-7434dup XM_047439464.1:c.230-7447_230-7434dup XM_047439464.1:c.230-7451_230-7434dup XM_047439464.1:c.230-7452_230-7434dup XM_047439464.1:c.230-7434_230-7433insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_047439464.1:c.230-7434_230-7433insAATAAAAAAAAAAAAAAAAAAAAAAAAAA
ZNF430 transcript variant X2 XM_047439465.1:c.227-7457= XM_047439465.1:c.227-7446_227-7434del XM_047439465.1:c.227-7445_227-7434del XM_047439465.1:c.227-7444_227-7434del XM_047439465.1:c.227-7443_227-7434del XM_047439465.1:c.227-7442_227-7434del XM_047439465.1:c.227-7441_227-7434del XM_047439465.1:c.227-7440_227-7434del XM_047439465.1:c.227-7439_227-7434del XM_047439465.1:c.227-7438_227-7434del XM_047439465.1:c.227-7437_227-7434del XM_047439465.1:c.227-7436_227-7434del XM_047439465.1:c.227-7435_227-7434del XM_047439465.1:c.227-7434del XM_047439465.1:c.227-7434dup XM_047439465.1:c.227-7435_227-7434dup XM_047439465.1:c.227-7436_227-7434dup XM_047439465.1:c.227-7437_227-7434dup XM_047439465.1:c.227-7438_227-7434dup XM_047439465.1:c.227-7439_227-7434dup XM_047439465.1:c.227-7440_227-7434dup XM_047439465.1:c.227-7441_227-7434dup XM_047439465.1:c.227-7442_227-7434dup XM_047439465.1:c.227-7443_227-7434dup XM_047439465.1:c.227-7444_227-7434dup XM_047439465.1:c.227-7445_227-7434dup XM_047439465.1:c.227-7446_227-7434dup XM_047439465.1:c.227-7447_227-7434dup XM_047439465.1:c.227-7451_227-7434dup XM_047439465.1:c.227-7452_227-7434dup XM_047439465.1:c.227-7434_227-7433insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_047439465.1:c.227-7434_227-7433insAATAAAAAAAAAAAAAAAAAAAAAAAAAA
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#.

63 SubSNP, 41 Frequency submissions
No Submitter Submission ID Date (Build)
1 HUMANGENOME_JCVI ss95724580 Oct 12, 2018 (152)
2 SSMP ss664431716 Apr 01, 2015 (144)
3 SWEGEN ss3017245078 Nov 08, 2017 (151)
4 MCHAISSO ss3063911175 Jan 10, 2018 (151)
5 MCHAISSO ss3064758619 Jan 10, 2018 (151)
6 URBANLAB ss3650885984 Oct 12, 2018 (152)
7 EVA_DECODE ss3702516950 Jul 13, 2019 (153)
8 EVA_DECODE ss3702516951 Jul 13, 2019 (153)
9 EVA_DECODE ss3702516952 Jul 13, 2019 (153)
10 PACBIO ss3788493562 Jul 13, 2019 (153)
11 PACBIO ss3793409359 Jul 13, 2019 (153)
12 PACBIO ss3793409360 Jul 13, 2019 (153)
13 PACBIO ss3798296155 Jul 13, 2019 (153)
14 PACBIO ss3798296156 Jul 13, 2019 (153)
15 EVA ss3835397034 Apr 27, 2020 (154)
16 GNOMAD ss4329134054 Apr 26, 2021 (155)
17 GNOMAD ss4329134055 Apr 26, 2021 (155)
18 GNOMAD ss4329134056 Apr 26, 2021 (155)
19 GNOMAD ss4329134057 Apr 26, 2021 (155)
20 GNOMAD ss4329134058 Apr 26, 2021 (155)
21 GNOMAD ss4329134059 Apr 26, 2021 (155)
22 GNOMAD ss4329134060 Apr 26, 2021 (155)
23 GNOMAD ss4329134061 Apr 26, 2021 (155)
24 GNOMAD ss4329134062 Apr 26, 2021 (155)
25 GNOMAD ss4329134063 Apr 26, 2021 (155)
26 GNOMAD ss4329134064 Apr 26, 2021 (155)
27 GNOMAD ss4329134065 Apr 26, 2021 (155)
28 GNOMAD ss4329134066 Apr 26, 2021 (155)
29 GNOMAD ss4329134067 Apr 26, 2021 (155)
30 GNOMAD ss4329134068 Apr 26, 2021 (155)
31 GNOMAD ss4329134069 Apr 26, 2021 (155)
32 GNOMAD ss4329134070 Apr 26, 2021 (155)
33 GNOMAD ss4329134071 Apr 26, 2021 (155)
34 GNOMAD ss4329134072 Apr 26, 2021 (155)
35 GNOMAD ss4329134073 Apr 26, 2021 (155)
36 GNOMAD ss4329134074 Apr 26, 2021 (155)
37 GNOMAD ss4329134075 Apr 26, 2021 (155)
38 GNOMAD ss4329134076 Apr 26, 2021 (155)
39 GNOMAD ss4329134077 Apr 26, 2021 (155)
40 GNOMAD ss4329134078 Apr 26, 2021 (155)
41 GNOMAD ss4329134079 Apr 26, 2021 (155)
42 GNOMAD ss4329134080 Apr 26, 2021 (155)
43 GNOMAD ss4329134081 Apr 26, 2021 (155)
44 GNOMAD ss4329134082 Apr 26, 2021 (155)
45 GNOMAD ss4329134083 Apr 26, 2021 (155)
46 TOMMO_GENOMICS ss5227155537 Apr 26, 2021 (155)
47 TOMMO_GENOMICS ss5227155538 Apr 26, 2021 (155)
48 TOMMO_GENOMICS ss5227155539 Apr 26, 2021 (155)
49 TOMMO_GENOMICS ss5227155540 Apr 26, 2021 (155)
50 TOMMO_GENOMICS ss5227155541 Apr 26, 2021 (155)
51 1000G_HIGH_COVERAGE ss5306800111 Oct 16, 2022 (156)
52 1000G_HIGH_COVERAGE ss5306800112 Oct 16, 2022 (156)
53 1000G_HIGH_COVERAGE ss5306800113 Oct 16, 2022 (156)
54 1000G_HIGH_COVERAGE ss5306800114 Oct 16, 2022 (156)
55 1000G_HIGH_COVERAGE ss5306800115 Oct 16, 2022 (156)
56 HUGCELL_USP ss5499387755 Oct 16, 2022 (156)
57 HUGCELL_USP ss5499387756 Oct 16, 2022 (156)
58 TOMMO_GENOMICS ss5785580015 Oct 16, 2022 (156)
59 TOMMO_GENOMICS ss5785580016 Oct 16, 2022 (156)
60 TOMMO_GENOMICS ss5785580017 Oct 16, 2022 (156)
61 TOMMO_GENOMICS ss5785580019 Oct 16, 2022 (156)
62 TOMMO_GENOMICS ss5785580020 Oct 16, 2022 (156)
63 EVA ss5852237460 Oct 16, 2022 (156)
64 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

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

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

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

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

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

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

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

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

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

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

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

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

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

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

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

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

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

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

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

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

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

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

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

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

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

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

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

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

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

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

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

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

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

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

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

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

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

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

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

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

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

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

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

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

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

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

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

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

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

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

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

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

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

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

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

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

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

Submission ignored due to conflicting rows:
Row 536465118 (NC_000019.10:21049173::A 48489/61082)
Row 536465119 (NC_000019.10:21049173::AA 1053/60350)
Row 536465120 (NC_000019.10:21049173::AAA 85/60932)...

- Apr 26, 2021 (155)
94 8.3KJPN

Submission ignored due to conflicting rows:
Row 85124844 (NC_000019.9:21231979::A 9841/15284)
Row 85124845 (NC_000019.9:21231979:AAAAAA: 16/15284)
Row 85124846 (NC_000019.9:21231979::AA 125/15284)...

- Apr 26, 2021 (155)
95 8.3KJPN

Submission ignored due to conflicting rows:
Row 85124844 (NC_000019.9:21231979::A 9841/15284)
Row 85124845 (NC_000019.9:21231979:AAAAAA: 16/15284)
Row 85124846 (NC_000019.9:21231979::AA 125/15284)...

- Apr 26, 2021 (155)
96 8.3KJPN

Submission ignored due to conflicting rows:
Row 85124844 (NC_000019.9:21231979::A 9841/15284)
Row 85124845 (NC_000019.9:21231979:AAAAAA: 16/15284)
Row 85124846 (NC_000019.9:21231979::AA 125/15284)...

- Apr 26, 2021 (155)
97 8.3KJPN

Submission ignored due to conflicting rows:
Row 85124844 (NC_000019.9:21231979::A 9841/15284)
Row 85124845 (NC_000019.9:21231979:AAAAAA: 16/15284)
Row 85124846 (NC_000019.9:21231979::AA 125/15284)...

- Apr 26, 2021 (155)
98 8.3KJPN

Submission ignored due to conflicting rows:
Row 85124844 (NC_000019.9:21231979::A 9841/15284)
Row 85124845 (NC_000019.9:21231979:AAAAAA: 16/15284)
Row 85124846 (NC_000019.9:21231979::AA 125/15284)...

- Apr 26, 2021 (155)
99 14KJPN

Submission ignored due to conflicting rows:
Row 119417119 (NC_000019.10:21049173::A 18331/26862)
Row 119417120 (NC_000019.10:21049173:AAAAAA: 27/26862)
Row 119417121 (NC_000019.10:21049173::AA 228/26862)...

- Oct 16, 2022 (156)
100 14KJPN

Submission ignored due to conflicting rows:
Row 119417119 (NC_000019.10:21049173::A 18331/26862)
Row 119417120 (NC_000019.10:21049173:AAAAAA: 27/26862)
Row 119417121 (NC_000019.10:21049173::AA 228/26862)...

- Oct 16, 2022 (156)
101 14KJPN

Submission ignored due to conflicting rows:
Row 119417119 (NC_000019.10:21049173::A 18331/26862)
Row 119417120 (NC_000019.10:21049173:AAAAAA: 27/26862)
Row 119417121 (NC_000019.10:21049173::AA 228/26862)...

- Oct 16, 2022 (156)
102 14KJPN

Submission ignored due to conflicting rows:
Row 119417119 (NC_000019.10:21049173::A 18331/26862)
Row 119417120 (NC_000019.10:21049173:AAAAAA: 27/26862)
Row 119417121 (NC_000019.10:21049173::AA 228/26862)...

- Oct 16, 2022 (156)
103 14KJPN

Submission ignored due to conflicting rows:
Row 119417119 (NC_000019.10:21049173::A 18331/26862)
Row 119417120 (NC_000019.10:21049173:AAAAAA: 27/26862)
Row 119417121 (NC_000019.10:21049173::AA 228/26862)...

- Oct 16, 2022 (156)
104 ALFA NC_000019.10 - 21049174 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
ss4329134083 NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAA:

NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss4329134082 NC_000019.10:21049173:AAAAAAAAAAAA: NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
2338640001 NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4329134081 NC_000019.10:21049173:AAAAAAAAAAA: NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
2338640001 NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4329134080 NC_000019.10:21049173:AAAAAAAAAA: NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
2338640001 NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
2338640001 NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4329134079 NC_000019.10:21049173:AAAAAAAA: NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
2338640001 NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4329134078 NC_000019.10:21049173:AAAAAAA: NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
2338640001 NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3017245078, ss5227155538 NC_000019.9:21231979:AAAAAA: NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4329134077, ss5785580016 NC_000019.10:21049173:AAAAAA: NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
2338640001 NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4329134076 NC_000019.10:21049173:AAAAA: NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
2338640001 NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4329134075 NC_000019.10:21049173:AAAA: NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
2338640001 NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4329134074 NC_000019.10:21049173:AAA: NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
2338640001 NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss4329134073 NC_000019.10:21049173:AA: NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
2338640001 NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss3702516952, ss4329134072, ss5306800115, ss5499387755 NC_000019.10:21049173:A: NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
2338640001 NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3788493562, ss3793409359, ss3798296155, ss3835397034, ss5227155537 NC_000019.9:21231979::A NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3063911175, ss3064758619, ss3650885984, ss4329134054, ss5499387756, ss5785580015 NC_000019.10:21049173::A NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
2338640001 NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3702516951 NC_000019.10:21049174::A NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss95724580 NT_011295.11:12494805::A NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss664431716, ss3793409360, ss3798296156, ss5227155539 NC_000019.9:21231979::AA NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4329134055, ss5306800113, ss5785580017 NC_000019.10:21049173::AA NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
2338640001 NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3702516950 NC_000019.10:21049174::AA NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4329134056, ss5306800111, ss5785580019, ss5852237460 NC_000019.10:21049173::AAA NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
2338640001 NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4329134057 NC_000019.10:21049173::AAAA NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
2338640001 NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4329134058 NC_000019.10:21049173::AAAAA NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
2338640001 NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5227155540 NC_000019.9:21231979::AAAAAA NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4329134059, ss5306800114, ss5785580020 NC_000019.10:21049173::AAAAAA NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
2338640001 NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5227155541 NC_000019.9:21231979::AAAAAAA NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4329134060, ss5306800112 NC_000019.10:21049173::AAAAAAA NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4329134061 NC_000019.10:21049173::AAAAAAAA NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4329134062 NC_000019.10:21049173::AAAAAAAAA NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4329134063 NC_000019.10:21049173::AAAAAAAAAA NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4329134064 NC_000019.10:21049173::AAAAAAAAAAA NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4329134065 NC_000019.10:21049173::AAAAAAAAAAAA NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4329134066 NC_000019.10:21049173::AAAAAAAAAAA…

NC_000019.10:21049173::AAAAAAAAAAAAA

NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4329134067 NC_000019.10:21049173::AAAAAAAAAAA…

NC_000019.10:21049173::AAAAAAAAAAAAAA

NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4329134068 NC_000019.10:21049173::AAAAAAAAAAA…

NC_000019.10:21049173::AAAAAAAAAAAAAAAAAA

NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4329134069 NC_000019.10:21049173::AAAAAAAAAAA…

NC_000019.10:21049173::AAAAAAAAAAAAAAAAAAA

NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4329134070 NC_000019.10:21049173::AAAAAAAAAAA…

NC_000019.10:21049173::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4329134071 NC_000019.10:21049173::AAAAAAAAAAA…

NC_000019.10:21049173::AAAAAAAAAAAAAAAAAAAAAAAAAATAA

NC_000019.10:21049173:AAAAAAAAAAAA…

NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA

(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 rs746043747

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