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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.

rs57542049

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:169130780-169130807 (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)19 / del(A)17 / del(A)15 / d…

del(A)19 / del(A)17 / 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)8 / dup(A)9

Variation Type
Indel Insertion and Deletion
Frequency
del(A)19=0.0000 (0/1276, ALFA)
del(A)17=0.0000 (0/1276, ALFA)
del(A)15=0.0000 (0/1276, ALFA) (+ 20 more)
del(A)14=0.0000 (0/1276, ALFA)
del(A)13=0.0000 (0/1276, ALFA)
del(A)12=0.0000 (0/1276, ALFA)
del(A)11=0.0000 (0/1276, ALFA)
del(A)10=0.0000 (0/1276, ALFA)
del(A)9=0.0000 (0/1276, ALFA)
del(A)8=0.0000 (0/1276, ALFA)
del(A)7=0.0000 (0/1276, ALFA)
del(A)6=0.0000 (0/1276, ALFA)
del(A)5=0.0000 (0/1276, ALFA)
del(A)4=0.0000 (0/1276, ALFA)
delAAA=0.0000 (0/1276, ALFA)
delAA=0.0000 (0/1276, ALFA)
delA=0.0000 (0/1276, ALFA)
dupA=0.0000 (0/1276, ALFA)
dupAA=0.0000 (0/1276, ALFA)
dupAAA=0.0000 (0/1276, ALFA)
dup(A)4=0.0000 (0/1276, ALFA)
dup(A)5=0.0000 (0/1276, ALFA)
dup(A)6=0.0000 (0/1276, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ATP1B1 : 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 1276 AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAA=0.0000, AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 654 AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Sub 502 AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 14 AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 488 AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 0 AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0 AAAAAAAAA=0, AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
East Asian Sub 0 AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0 AAAAAAAAA=0, AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Other Asian Sub 0 AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0 AAAAAAAAA=0, AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Latin American 1 Sub 6 AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAA=0.0, AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 2 Sub 66 AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
South Asian Sub 4 AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAA=0.0, AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Sub 44 AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=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 1276 (A)28=1.0000 del(A)19=0.0000, del(A)17=0.0000, del(A)15=0.0000, del(A)14=0.0000, del(A)13=0.0000, 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 European Sub 654 (A)28=1.000 del(A)19=0.000, del(A)17=0.000, del(A)15=0.000, del(A)14=0.000, del(A)13=0.000, 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 African Sub 502 (A)28=1.000 del(A)19=0.000, del(A)17=0.000, del(A)15=0.000, del(A)14=0.000, del(A)13=0.000, 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 Latin American 2 Sub 66 (A)28=1.00 del(A)19=0.00, del(A)17=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 Other Sub 44 (A)28=1.00 del(A)19=0.00, del(A)17=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 1 Sub 6 (A)28=1.0 del(A)19=0.0, del(A)17=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 South Asian Sub 4 (A)28=1.0 del(A)19=0.0, del(A)17=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 Asian Sub 0 (A)28=0 del(A)19=0, del(A)17=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
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.169130789_169130807del
GRCh38.p14 chr 1 NC_000001.11:g.169130791_169130807del
GRCh38.p14 chr 1 NC_000001.11:g.169130793_169130807del
GRCh38.p14 chr 1 NC_000001.11:g.169130794_169130807del
GRCh38.p14 chr 1 NC_000001.11:g.169130795_169130807del
GRCh38.p14 chr 1 NC_000001.11:g.169130796_169130807del
GRCh38.p14 chr 1 NC_000001.11:g.169130797_169130807del
GRCh38.p14 chr 1 NC_000001.11:g.169130798_169130807del
GRCh38.p14 chr 1 NC_000001.11:g.169130799_169130807del
GRCh38.p14 chr 1 NC_000001.11:g.169130800_169130807del
GRCh38.p14 chr 1 NC_000001.11:g.169130801_169130807del
GRCh38.p14 chr 1 NC_000001.11:g.169130802_169130807del
GRCh38.p14 chr 1 NC_000001.11:g.169130803_169130807del
GRCh38.p14 chr 1 NC_000001.11:g.169130804_169130807del
GRCh38.p14 chr 1 NC_000001.11:g.169130805_169130807del
GRCh38.p14 chr 1 NC_000001.11:g.169130806_169130807del
GRCh38.p14 chr 1 NC_000001.11:g.169130807del
GRCh38.p14 chr 1 NC_000001.11:g.169130807dup
GRCh38.p14 chr 1 NC_000001.11:g.169130806_169130807dup
GRCh38.p14 chr 1 NC_000001.11:g.169130805_169130807dup
GRCh38.p14 chr 1 NC_000001.11:g.169130804_169130807dup
GRCh38.p14 chr 1 NC_000001.11:g.169130803_169130807dup
GRCh38.p14 chr 1 NC_000001.11:g.169130802_169130807dup
GRCh38.p14 chr 1 NC_000001.11:g.169130801_169130807dup
GRCh38.p14 chr 1 NC_000001.11:g.169130800_169130807dup
GRCh38.p14 chr 1 NC_000001.11:g.169130799_169130807dup
GRCh37.p13 chr 1 NC_000001.10:g.169100027_169100045del
GRCh37.p13 chr 1 NC_000001.10:g.169100029_169100045del
GRCh37.p13 chr 1 NC_000001.10:g.169100031_169100045del
GRCh37.p13 chr 1 NC_000001.10:g.169100032_169100045del
GRCh37.p13 chr 1 NC_000001.10:g.169100033_169100045del
GRCh37.p13 chr 1 NC_000001.10:g.169100034_169100045del
GRCh37.p13 chr 1 NC_000001.10:g.169100035_169100045del
GRCh37.p13 chr 1 NC_000001.10:g.169100036_169100045del
GRCh37.p13 chr 1 NC_000001.10:g.169100037_169100045del
GRCh37.p13 chr 1 NC_000001.10:g.169100038_169100045del
GRCh37.p13 chr 1 NC_000001.10:g.169100039_169100045del
GRCh37.p13 chr 1 NC_000001.10:g.169100040_169100045del
GRCh37.p13 chr 1 NC_000001.10:g.169100041_169100045del
GRCh37.p13 chr 1 NC_000001.10:g.169100042_169100045del
GRCh37.p13 chr 1 NC_000001.10:g.169100043_169100045del
GRCh37.p13 chr 1 NC_000001.10:g.169100044_169100045del
GRCh37.p13 chr 1 NC_000001.10:g.169100045del
GRCh37.p13 chr 1 NC_000001.10:g.169100045dup
GRCh37.p13 chr 1 NC_000001.10:g.169100044_169100045dup
GRCh37.p13 chr 1 NC_000001.10:g.169100043_169100045dup
GRCh37.p13 chr 1 NC_000001.10:g.169100042_169100045dup
GRCh37.p13 chr 1 NC_000001.10:g.169100041_169100045dup
GRCh37.p13 chr 1 NC_000001.10:g.169100040_169100045dup
GRCh37.p13 chr 1 NC_000001.10:g.169100039_169100045dup
GRCh37.p13 chr 1 NC_000001.10:g.169100038_169100045dup
GRCh37.p13 chr 1 NC_000001.10:g.169100037_169100045dup
NME7 RefSeqGene NG_051763.1:g.242166_242184del
NME7 RefSeqGene NG_051763.1:g.242168_242184del
NME7 RefSeqGene NG_051763.1:g.242170_242184del
NME7 RefSeqGene NG_051763.1:g.242171_242184del
NME7 RefSeqGene NG_051763.1:g.242172_242184del
NME7 RefSeqGene NG_051763.1:g.242173_242184del
NME7 RefSeqGene NG_051763.1:g.242174_242184del
NME7 RefSeqGene NG_051763.1:g.242175_242184del
NME7 RefSeqGene NG_051763.1:g.242176_242184del
NME7 RefSeqGene NG_051763.1:g.242177_242184del
NME7 RefSeqGene NG_051763.1:g.242178_242184del
NME7 RefSeqGene NG_051763.1:g.242179_242184del
NME7 RefSeqGene NG_051763.1:g.242180_242184del
NME7 RefSeqGene NG_051763.1:g.242181_242184del
NME7 RefSeqGene NG_051763.1:g.242182_242184del
NME7 RefSeqGene NG_051763.1:g.242183_242184del
NME7 RefSeqGene NG_051763.1:g.242184del
NME7 RefSeqGene NG_051763.1:g.242184dup
NME7 RefSeqGene NG_051763.1:g.242183_242184dup
NME7 RefSeqGene NG_051763.1:g.242182_242184dup
NME7 RefSeqGene NG_051763.1:g.242181_242184dup
NME7 RefSeqGene NG_051763.1:g.242180_242184dup
NME7 RefSeqGene NG_051763.1:g.242179_242184dup
NME7 RefSeqGene NG_051763.1:g.242178_242184dup
NME7 RefSeqGene NG_051763.1:g.242177_242184dup
NME7 RefSeqGene NG_051763.1:g.242176_242184dup
ATP1B1 RefSeqGene NG_023230.1:g.29081_29099del
ATP1B1 RefSeqGene NG_023230.1:g.29083_29099del
ATP1B1 RefSeqGene NG_023230.1:g.29085_29099del
ATP1B1 RefSeqGene NG_023230.1:g.29086_29099del
ATP1B1 RefSeqGene NG_023230.1:g.29087_29099del
ATP1B1 RefSeqGene NG_023230.1:g.29088_29099del
ATP1B1 RefSeqGene NG_023230.1:g.29089_29099del
ATP1B1 RefSeqGene NG_023230.1:g.29090_29099del
ATP1B1 RefSeqGene NG_023230.1:g.29091_29099del
ATP1B1 RefSeqGene NG_023230.1:g.29092_29099del
ATP1B1 RefSeqGene NG_023230.1:g.29093_29099del
ATP1B1 RefSeqGene NG_023230.1:g.29094_29099del
ATP1B1 RefSeqGene NG_023230.1:g.29095_29099del
ATP1B1 RefSeqGene NG_023230.1:g.29096_29099del
ATP1B1 RefSeqGene NG_023230.1:g.29097_29099del
ATP1B1 RefSeqGene NG_023230.1:g.29098_29099del
ATP1B1 RefSeqGene NG_023230.1:g.29099del
ATP1B1 RefSeqGene NG_023230.1:g.29099dup
ATP1B1 RefSeqGene NG_023230.1:g.29098_29099dup
ATP1B1 RefSeqGene NG_023230.1:g.29097_29099dup
ATP1B1 RefSeqGene NG_023230.1:g.29096_29099dup
ATP1B1 RefSeqGene NG_023230.1:g.29095_29099dup
ATP1B1 RefSeqGene NG_023230.1:g.29094_29099dup
ATP1B1 RefSeqGene NG_023230.1:g.29093_29099dup
ATP1B1 RefSeqGene NG_023230.1:g.29092_29099dup
ATP1B1 RefSeqGene NG_023230.1:g.29091_29099dup
Gene: ATP1B1, ATPase Na+/K+ transporting subunit beta 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ATP1B1 transcript NM_001677.4:c.649-503_649…

NM_001677.4:c.649-503_649-485del

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)28= del(A)19 del(A)17 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)8 dup(A)9
GRCh38.p14 chr 1 NC_000001.11:g.169130780_169130807= NC_000001.11:g.169130789_169130807del NC_000001.11:g.169130791_169130807del NC_000001.11:g.169130793_169130807del NC_000001.11:g.169130794_169130807del NC_000001.11:g.169130795_169130807del NC_000001.11:g.169130796_169130807del NC_000001.11:g.169130797_169130807del NC_000001.11:g.169130798_169130807del NC_000001.11:g.169130799_169130807del NC_000001.11:g.169130800_169130807del NC_000001.11:g.169130801_169130807del NC_000001.11:g.169130802_169130807del NC_000001.11:g.169130803_169130807del NC_000001.11:g.169130804_169130807del NC_000001.11:g.169130805_169130807del NC_000001.11:g.169130806_169130807del NC_000001.11:g.169130807del NC_000001.11:g.169130807dup NC_000001.11:g.169130806_169130807dup NC_000001.11:g.169130805_169130807dup NC_000001.11:g.169130804_169130807dup NC_000001.11:g.169130803_169130807dup NC_000001.11:g.169130802_169130807dup NC_000001.11:g.169130801_169130807dup NC_000001.11:g.169130800_169130807dup NC_000001.11:g.169130799_169130807dup
GRCh37.p13 chr 1 NC_000001.10:g.169100018_169100045= NC_000001.10:g.169100027_169100045del NC_000001.10:g.169100029_169100045del NC_000001.10:g.169100031_169100045del NC_000001.10:g.169100032_169100045del NC_000001.10:g.169100033_169100045del NC_000001.10:g.169100034_169100045del NC_000001.10:g.169100035_169100045del NC_000001.10:g.169100036_169100045del NC_000001.10:g.169100037_169100045del NC_000001.10:g.169100038_169100045del NC_000001.10:g.169100039_169100045del NC_000001.10:g.169100040_169100045del NC_000001.10:g.169100041_169100045del NC_000001.10:g.169100042_169100045del NC_000001.10:g.169100043_169100045del NC_000001.10:g.169100044_169100045del NC_000001.10:g.169100045del NC_000001.10:g.169100045dup NC_000001.10:g.169100044_169100045dup NC_000001.10:g.169100043_169100045dup NC_000001.10:g.169100042_169100045dup NC_000001.10:g.169100041_169100045dup NC_000001.10:g.169100040_169100045dup NC_000001.10:g.169100039_169100045dup NC_000001.10:g.169100038_169100045dup NC_000001.10:g.169100037_169100045dup
NME7 RefSeqGene NG_051763.1:g.242157_242184= NG_051763.1:g.242166_242184del NG_051763.1:g.242168_242184del NG_051763.1:g.242170_242184del NG_051763.1:g.242171_242184del NG_051763.1:g.242172_242184del NG_051763.1:g.242173_242184del NG_051763.1:g.242174_242184del NG_051763.1:g.242175_242184del NG_051763.1:g.242176_242184del NG_051763.1:g.242177_242184del NG_051763.1:g.242178_242184del NG_051763.1:g.242179_242184del NG_051763.1:g.242180_242184del NG_051763.1:g.242181_242184del NG_051763.1:g.242182_242184del NG_051763.1:g.242183_242184del NG_051763.1:g.242184del NG_051763.1:g.242184dup NG_051763.1:g.242183_242184dup NG_051763.1:g.242182_242184dup NG_051763.1:g.242181_242184dup NG_051763.1:g.242180_242184dup NG_051763.1:g.242179_242184dup NG_051763.1:g.242178_242184dup NG_051763.1:g.242177_242184dup NG_051763.1:g.242176_242184dup
ATP1B1 RefSeqGene NG_023230.1:g.29072_29099= NG_023230.1:g.29081_29099del NG_023230.1:g.29083_29099del NG_023230.1:g.29085_29099del NG_023230.1:g.29086_29099del NG_023230.1:g.29087_29099del NG_023230.1:g.29088_29099del NG_023230.1:g.29089_29099del NG_023230.1:g.29090_29099del NG_023230.1:g.29091_29099del NG_023230.1:g.29092_29099del NG_023230.1:g.29093_29099del NG_023230.1:g.29094_29099del NG_023230.1:g.29095_29099del NG_023230.1:g.29096_29099del NG_023230.1:g.29097_29099del NG_023230.1:g.29098_29099del NG_023230.1:g.29099del NG_023230.1:g.29099dup NG_023230.1:g.29098_29099dup NG_023230.1:g.29097_29099dup NG_023230.1:g.29096_29099dup NG_023230.1:g.29095_29099dup NG_023230.1:g.29094_29099dup NG_023230.1:g.29093_29099dup NG_023230.1:g.29092_29099dup NG_023230.1:g.29091_29099dup
ATP1B1 transcript NM_001677.3:c.649-512= NM_001677.3:c.649-503_649-485del NM_001677.3:c.649-501_649-485del NM_001677.3:c.649-499_649-485del NM_001677.3:c.649-498_649-485del NM_001677.3:c.649-497_649-485del NM_001677.3:c.649-496_649-485del NM_001677.3:c.649-495_649-485del NM_001677.3:c.649-494_649-485del NM_001677.3:c.649-493_649-485del NM_001677.3:c.649-492_649-485del NM_001677.3:c.649-491_649-485del NM_001677.3:c.649-490_649-485del NM_001677.3:c.649-489_649-485del NM_001677.3:c.649-488_649-485del NM_001677.3:c.649-487_649-485del NM_001677.3:c.649-486_649-485del NM_001677.3:c.649-485del NM_001677.3:c.649-485dup NM_001677.3:c.649-486_649-485dup NM_001677.3:c.649-487_649-485dup NM_001677.3:c.649-488_649-485dup NM_001677.3:c.649-489_649-485dup NM_001677.3:c.649-490_649-485dup NM_001677.3:c.649-491_649-485dup NM_001677.3:c.649-492_649-485dup NM_001677.3:c.649-493_649-485dup
ATP1B1 transcript NM_001677.4:c.649-512= NM_001677.4:c.649-503_649-485del NM_001677.4:c.649-501_649-485del NM_001677.4:c.649-499_649-485del NM_001677.4:c.649-498_649-485del NM_001677.4:c.649-497_649-485del NM_001677.4:c.649-496_649-485del NM_001677.4:c.649-495_649-485del NM_001677.4:c.649-494_649-485del NM_001677.4:c.649-493_649-485del NM_001677.4:c.649-492_649-485del NM_001677.4:c.649-491_649-485del NM_001677.4:c.649-490_649-485del NM_001677.4:c.649-489_649-485del NM_001677.4:c.649-488_649-485del NM_001677.4:c.649-487_649-485del NM_001677.4:c.649-486_649-485del NM_001677.4:c.649-485del NM_001677.4:c.649-485dup NM_001677.4:c.649-486_649-485dup NM_001677.4:c.649-487_649-485dup NM_001677.4:c.649-488_649-485dup NM_001677.4:c.649-489_649-485dup NM_001677.4:c.649-490_649-485dup NM_001677.4:c.649-491_649-485dup NM_001677.4:c.649-492_649-485dup NM_001677.4:c.649-493_649-485dup
ATP1B1 transcript variant X1 XM_005245213.1:c.625-512= XM_005245213.1:c.625-503_625-485del XM_005245213.1:c.625-501_625-485del XM_005245213.1:c.625-499_625-485del XM_005245213.1:c.625-498_625-485del XM_005245213.1:c.625-497_625-485del XM_005245213.1:c.625-496_625-485del XM_005245213.1:c.625-495_625-485del XM_005245213.1:c.625-494_625-485del XM_005245213.1:c.625-493_625-485del XM_005245213.1:c.625-492_625-485del XM_005245213.1:c.625-491_625-485del XM_005245213.1:c.625-490_625-485del XM_005245213.1:c.625-489_625-485del XM_005245213.1:c.625-488_625-485del XM_005245213.1:c.625-487_625-485del XM_005245213.1:c.625-486_625-485del XM_005245213.1:c.625-485del XM_005245213.1:c.625-485dup XM_005245213.1:c.625-486_625-485dup XM_005245213.1:c.625-487_625-485dup XM_005245213.1:c.625-488_625-485dup XM_005245213.1:c.625-489_625-485dup XM_005245213.1:c.625-490_625-485dup XM_005245213.1:c.625-491_625-485dup XM_005245213.1:c.625-492_625-485dup XM_005245213.1:c.625-493_625-485dup
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#.

62 SubSNP, 35 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss82294525 Dec 14, 2007 (129)
2 HUMANGENOME_JCVI ss95246205 Feb 13, 2009 (130)
3 PJP ss294609732 May 09, 2011 (135)
4 SSMP ss663130547 Apr 01, 2015 (144)
5 SWEGEN ss2987919276 Nov 08, 2017 (151)
6 URBANLAB ss3646814625 Oct 11, 2018 (152)
7 EVA_DECODE ss3687984336 Jul 12, 2019 (153)
8 EVA_DECODE ss3687984337 Jul 12, 2019 (153)
9 EVA_DECODE ss3687984338 Jul 12, 2019 (153)
10 EVA_DECODE ss3687984339 Jul 12, 2019 (153)
11 EVA_DECODE ss3687984340 Jul 12, 2019 (153)
12 EVA_DECODE ss3687984341 Jul 12, 2019 (153)
13 PACBIO ss3783596073 Jul 12, 2019 (153)
14 PACBIO ss3789222907 Jul 12, 2019 (153)
15 PACBIO ss3789222908 Jul 12, 2019 (153)
16 PACBIO ss3794094921 Jul 12, 2019 (153)
17 EVA ss3826479035 Apr 25, 2020 (154)
18 GNOMAD ss4005494070 Apr 25, 2021 (155)
19 GNOMAD ss4005494071 Apr 25, 2021 (155)
20 GNOMAD ss4005494072 Apr 25, 2021 (155)
21 GNOMAD ss4005494073 Apr 25, 2021 (155)
22 GNOMAD ss4005494074 Apr 25, 2021 (155)
23 GNOMAD ss4005494075 Apr 25, 2021 (155)
24 GNOMAD ss4005494076 Apr 25, 2021 (155)
25 GNOMAD ss4005494077 Apr 25, 2021 (155)
26 GNOMAD ss4005494078 Apr 25, 2021 (155)
27 GNOMAD ss4005494079 Apr 25, 2021 (155)
28 GNOMAD ss4005494080 Apr 25, 2021 (155)
29 GNOMAD ss4005494081 Apr 25, 2021 (155)
30 GNOMAD ss4005494082 Apr 25, 2021 (155)
31 GNOMAD ss4005494083 Apr 25, 2021 (155)
32 GNOMAD ss4005494084 Apr 25, 2021 (155)
33 GNOMAD ss4005494085 Apr 25, 2021 (155)
34 GNOMAD ss4005494086 Apr 25, 2021 (155)
35 GNOMAD ss4005494087 Apr 25, 2021 (155)
36 GNOMAD ss4005494088 Apr 25, 2021 (155)
37 GNOMAD ss4005494089 Apr 25, 2021 (155)
38 GNOMAD ss4005494090 Apr 25, 2021 (155)
39 GNOMAD ss4005494091 Apr 25, 2021 (155)
40 GNOMAD ss4005494092 Apr 25, 2021 (155)
41 TOMMO_GENOMICS ss5146947123 Apr 25, 2021 (155)
42 TOMMO_GENOMICS ss5146947124 Apr 25, 2021 (155)
43 TOMMO_GENOMICS ss5146947125 Apr 25, 2021 (155)
44 TOMMO_GENOMICS ss5146947126 Apr 25, 2021 (155)
45 TOMMO_GENOMICS ss5146947127 Apr 25, 2021 (155)
46 TOMMO_GENOMICS ss5146947128 Apr 25, 2021 (155)
47 1000G_HIGH_COVERAGE ss5244649884 Oct 12, 2022 (156)
48 1000G_HIGH_COVERAGE ss5244649885 Oct 12, 2022 (156)
49 1000G_HIGH_COVERAGE ss5244649886 Oct 12, 2022 (156)
50 1000G_HIGH_COVERAGE ss5244649887 Oct 12, 2022 (156)
51 HUGCELL_USP ss5445199247 Oct 12, 2022 (156)
52 HUGCELL_USP ss5445199248 Oct 12, 2022 (156)
53 HUGCELL_USP ss5445199249 Oct 12, 2022 (156)
54 HUGCELL_USP ss5445199250 Oct 12, 2022 (156)
55 HUGCELL_USP ss5445199251 Oct 12, 2022 (156)
56 HUGCELL_USP ss5445199252 Oct 12, 2022 (156)
57 TOMMO_GENOMICS ss5674279629 Oct 12, 2022 (156)
58 TOMMO_GENOMICS ss5674279630 Oct 12, 2022 (156)
59 TOMMO_GENOMICS ss5674279631 Oct 12, 2022 (156)
60 TOMMO_GENOMICS ss5674279632 Oct 12, 2022 (156)
61 TOMMO_GENOMICS ss5674279633 Oct 12, 2022 (156)
62 EVA ss5849151790 Oct 12, 2022 (156)
63 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 29994647 (NC_000001.11:169130779::A 7123/68196)
Row 29994648 (NC_000001.11:169130779::AA 1374/68238)
Row 29994649 (NC_000001.11:169130779::AAA 198/68284)...

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

Submission ignored due to conflicting rows:
Row 29994647 (NC_000001.11:169130779::A 7123/68196)
Row 29994648 (NC_000001.11:169130779::AA 1374/68238)
Row 29994649 (NC_000001.11:169130779::AAA 198/68284)...

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

Submission ignored due to conflicting rows:
Row 29994647 (NC_000001.11:169130779::A 7123/68196)
Row 29994648 (NC_000001.11:169130779::AA 1374/68238)
Row 29994649 (NC_000001.11:169130779::AAA 198/68284)...

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

Submission ignored due to conflicting rows:
Row 29994647 (NC_000001.11:169130779::A 7123/68196)
Row 29994648 (NC_000001.11:169130779::AA 1374/68238)
Row 29994649 (NC_000001.11:169130779::AAA 198/68284)...

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

Submission ignored due to conflicting rows:
Row 29994647 (NC_000001.11:169130779::A 7123/68196)
Row 29994648 (NC_000001.11:169130779::AA 1374/68238)
Row 29994649 (NC_000001.11:169130779::AAA 198/68284)...

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

Submission ignored due to conflicting rows:
Row 29994647 (NC_000001.11:169130779::A 7123/68196)
Row 29994648 (NC_000001.11:169130779::AA 1374/68238)
Row 29994649 (NC_000001.11:169130779::AAA 198/68284)...

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

Submission ignored due to conflicting rows:
Row 29994647 (NC_000001.11:169130779::A 7123/68196)
Row 29994648 (NC_000001.11:169130779::AA 1374/68238)
Row 29994649 (NC_000001.11:169130779::AAA 198/68284)...

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

Submission ignored due to conflicting rows:
Row 29994647 (NC_000001.11:169130779::A 7123/68196)
Row 29994648 (NC_000001.11:169130779::AA 1374/68238)
Row 29994649 (NC_000001.11:169130779::AAA 198/68284)...

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

Submission ignored due to conflicting rows:
Row 29994647 (NC_000001.11:169130779::A 7123/68196)
Row 29994648 (NC_000001.11:169130779::AA 1374/68238)
Row 29994649 (NC_000001.11:169130779::AAA 198/68284)...

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

Submission ignored due to conflicting rows:
Row 29994647 (NC_000001.11:169130779::A 7123/68196)
Row 29994648 (NC_000001.11:169130779::AA 1374/68238)
Row 29994649 (NC_000001.11:169130779::AAA 198/68284)...

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

Submission ignored due to conflicting rows:
Row 29994647 (NC_000001.11:169130779::A 7123/68196)
Row 29994648 (NC_000001.11:169130779::AA 1374/68238)
Row 29994649 (NC_000001.11:169130779::AAA 198/68284)...

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

Submission ignored due to conflicting rows:
Row 29994647 (NC_000001.11:169130779::A 7123/68196)
Row 29994648 (NC_000001.11:169130779::AA 1374/68238)
Row 29994649 (NC_000001.11:169130779::AAA 198/68284)...

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

Submission ignored due to conflicting rows:
Row 29994647 (NC_000001.11:169130779::A 7123/68196)
Row 29994648 (NC_000001.11:169130779::AA 1374/68238)
Row 29994649 (NC_000001.11:169130779::AAA 198/68284)...

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

Submission ignored due to conflicting rows:
Row 29994647 (NC_000001.11:169130779::A 7123/68196)
Row 29994648 (NC_000001.11:169130779::AA 1374/68238)
Row 29994649 (NC_000001.11:169130779::AAA 198/68284)...

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

Submission ignored due to conflicting rows:
Row 29994647 (NC_000001.11:169130779::A 7123/68196)
Row 29994648 (NC_000001.11:169130779::AA 1374/68238)
Row 29994649 (NC_000001.11:169130779::AAA 198/68284)...

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

Submission ignored due to conflicting rows:
Row 29994647 (NC_000001.11:169130779::A 7123/68196)
Row 29994648 (NC_000001.11:169130779::AA 1374/68238)
Row 29994649 (NC_000001.11:169130779::AAA 198/68284)...

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

Submission ignored due to conflicting rows:
Row 29994647 (NC_000001.11:169130779::A 7123/68196)
Row 29994648 (NC_000001.11:169130779::AA 1374/68238)
Row 29994649 (NC_000001.11:169130779::AAA 198/68284)...

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

Submission ignored due to conflicting rows:
Row 29994647 (NC_000001.11:169130779::A 7123/68196)
Row 29994648 (NC_000001.11:169130779::AA 1374/68238)
Row 29994649 (NC_000001.11:169130779::AAA 198/68284)...

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

Submission ignored due to conflicting rows:
Row 29994647 (NC_000001.11:169130779::A 7123/68196)
Row 29994648 (NC_000001.11:169130779::AA 1374/68238)
Row 29994649 (NC_000001.11:169130779::AAA 198/68284)...

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

Submission ignored due to conflicting rows:
Row 29994647 (NC_000001.11:169130779::A 7123/68196)
Row 29994648 (NC_000001.11:169130779::AA 1374/68238)
Row 29994649 (NC_000001.11:169130779::AAA 198/68284)...

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

Submission ignored due to conflicting rows:
Row 29994647 (NC_000001.11:169130779::A 7123/68196)
Row 29994648 (NC_000001.11:169130779::AA 1374/68238)
Row 29994649 (NC_000001.11:169130779::AAA 198/68284)...

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

Submission ignored due to conflicting rows:
Row 29994647 (NC_000001.11:169130779::A 7123/68196)
Row 29994648 (NC_000001.11:169130779::AA 1374/68238)
Row 29994649 (NC_000001.11:169130779::AAA 198/68284)...

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

Submission ignored due to conflicting rows:
Row 29994647 (NC_000001.11:169130779::A 7123/68196)
Row 29994648 (NC_000001.11:169130779::AA 1374/68238)
Row 29994649 (NC_000001.11:169130779::AAA 198/68284)...

- Apr 25, 2021 (155)
86 8.3KJPN

Submission ignored due to conflicting rows:
Row 4916430 (NC_000001.10:169100017:AAAAA: 7915/16246)
Row 4916431 (NC_000001.10:169100017:AAAAAAA: 1372/16246)
Row 4916432 (NC_000001.10:169100017:A: 969/16246)...

- Apr 25, 2021 (155)
87 8.3KJPN

Submission ignored due to conflicting rows:
Row 4916430 (NC_000001.10:169100017:AAAAA: 7915/16246)
Row 4916431 (NC_000001.10:169100017:AAAAAAA: 1372/16246)
Row 4916432 (NC_000001.10:169100017:A: 969/16246)...

- Apr 25, 2021 (155)
88 8.3KJPN

Submission ignored due to conflicting rows:
Row 4916430 (NC_000001.10:169100017:AAAAA: 7915/16246)
Row 4916431 (NC_000001.10:169100017:AAAAAAA: 1372/16246)
Row 4916432 (NC_000001.10:169100017:A: 969/16246)...

- Apr 25, 2021 (155)
89 8.3KJPN

Submission ignored due to conflicting rows:
Row 4916430 (NC_000001.10:169100017:AAAAA: 7915/16246)
Row 4916431 (NC_000001.10:169100017:AAAAAAA: 1372/16246)
Row 4916432 (NC_000001.10:169100017:A: 969/16246)...

- Apr 25, 2021 (155)
90 8.3KJPN

Submission ignored due to conflicting rows:
Row 4916430 (NC_000001.10:169100017:AAAAA: 7915/16246)
Row 4916431 (NC_000001.10:169100017:AAAAAAA: 1372/16246)
Row 4916432 (NC_000001.10:169100017:A: 969/16246)...

- Apr 25, 2021 (155)
91 8.3KJPN

Submission ignored due to conflicting rows:
Row 4916430 (NC_000001.10:169100017:AAAAA: 7915/16246)
Row 4916431 (NC_000001.10:169100017:AAAAAAA: 1372/16246)
Row 4916432 (NC_000001.10:169100017:A: 969/16246)...

- Apr 25, 2021 (155)
92 14KJPN

Submission ignored due to conflicting rows:
Row 8116733 (NC_000001.11:169130779:AAAAA: 15366/27346)
Row 8116734 (NC_000001.11:169130779::A 652/27346)
Row 8116735 (NC_000001.11:169130779:AAAAAAA: 2617/27346)...

- Oct 12, 2022 (156)
93 14KJPN

Submission ignored due to conflicting rows:
Row 8116733 (NC_000001.11:169130779:AAAAA: 15366/27346)
Row 8116734 (NC_000001.11:169130779::A 652/27346)
Row 8116735 (NC_000001.11:169130779:AAAAAAA: 2617/27346)...

- Oct 12, 2022 (156)
94 14KJPN

Submission ignored due to conflicting rows:
Row 8116733 (NC_000001.11:169130779:AAAAA: 15366/27346)
Row 8116734 (NC_000001.11:169130779::A 652/27346)
Row 8116735 (NC_000001.11:169130779:AAAAAAA: 2617/27346)...

- Oct 12, 2022 (156)
95 14KJPN

Submission ignored due to conflicting rows:
Row 8116733 (NC_000001.11:169130779:AAAAA: 15366/27346)
Row 8116734 (NC_000001.11:169130779::A 652/27346)
Row 8116735 (NC_000001.11:169130779:AAAAAAA: 2617/27346)...

- Oct 12, 2022 (156)
96 14KJPN

Submission ignored due to conflicting rows:
Row 8116733 (NC_000001.11:169130779:AAAAA: 15366/27346)
Row 8116734 (NC_000001.11:169130779::A 652/27346)
Row 8116735 (NC_000001.11:169130779:AAAAAAA: 2617/27346)...

- Oct 12, 2022 (156)
97 ALFA NC_000001.11 - 169130780 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)
rs140956046 Sep 17, 2011 (135)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4005494092 NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAA:

NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
11605835877 NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
ss4005494091 NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAA:

NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
11605835877 NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss4005494090 NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAA:

NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
11605835877 NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4005494089 NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAA:

NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
11605835877 NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
11605835877 NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4005494088 NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAA:

NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
11605835877 NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4005494087 NC_000001.11:169130779:AAAAAAAAAAA: NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
11605835877 NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4005494086, ss5244649886 NC_000001.11:169130779:AAAAAAAAAA: NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
11605835877 NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4005494085, ss5849151790 NC_000001.11:169130779:AAAAAAAAA: NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
11605835877 NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss82294525 NC_000001.8:165831695:AAAAAAAA: NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3783596073 NC_000001.10:169100017:AAAAAAAA: NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4005494084 NC_000001.11:169130779:AAAAAAAA: NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
11605835877 NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss2987919276, ss3789222907, ss3794094921, ss5146947124 NC_000001.10:169100017:AAAAAAA: NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3687984341, ss4005494083, ss5244649884, ss5445199252, ss5674279631 NC_000001.11:169130779:AAAAAAA: NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
11605835877 NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss5146947128 NC_000001.10:169100017:AAAAAA: NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss3646814625, ss4005494082, ss5244649887, ss5445199251 NC_000001.11:169130779:AAAAAA: NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
11605835877 NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss3687984340 NC_000001.11:169130780:AAAAAA: NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss294609732 NC_000001.9:167366664:AAAAA: NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3826479035, ss5146947123 NC_000001.10:169100017:AAAAA: NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4005494081, ss5244649885, ss5445199248, ss5674279629 NC_000001.11:169130779:AAAAA: NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
11605835877 NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3687984339 NC_000001.11:169130781:AAAAA: NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss95246205 NT_004487.19:20588682:AAAAA: NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5146947127 NC_000001.10:169100017:AAAA: NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5445199250, ss5674279633 NC_000001.11:169130779:AAAA: NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
11605835877 NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3687984338 NC_000001.11:169130782:AAAA: NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4005494080 NC_000001.11:169130779:AAA: NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
11605835877 NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
11605835877 NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss663130547, ss5146947125 NC_000001.10:169100017:A: NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4005494079, ss5445199247, ss5674279632 NC_000001.11:169130779:A: NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
11605835877 NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3687984337 NC_000001.11:169130785:A: NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3789222908, ss5146947126 NC_000001.10:169100017::A NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4005494070, ss5445199249, ss5674279630 NC_000001.11:169130779::A NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
11605835877 NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3687984336 NC_000001.11:169130786::A NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4005494071 NC_000001.11:169130779::AA NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
11605835877 NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4005494072 NC_000001.11:169130779::AAA NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
11605835877 NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4005494073 NC_000001.11:169130779::AAAA NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
11605835877 NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4005494074 NC_000001.11:169130779::AAAAA NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
11605835877 NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4005494075 NC_000001.11:169130779::AAAAAA NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
11605835877 NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4005494076 NC_000001.11:169130779::AAAAAAA NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4005494077 NC_000001.11:169130779::AAAAAAAA NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4005494078 NC_000001.11:169130779::AAAAAAAAA NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3094792958 NC_000001.11:169130779:AA: NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

ss3094792967 NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAA:

NC_000001.11:169130779:AAAAAAAAAAA…

NC_000001.11:169130779:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

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 rs57542049

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