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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.

rs3057402

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr21:33468067-33468082 (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)6 / del(A)4 / delAAA / delAA…

del(A)6 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)5 / dup(A)6 / dup(A)7 / dup(A)10

Variation Type
Indel Insertion and Deletion
Frequency
del(A)6=0.000004 (1/264690, TOPMED)
dup(A)5=0.2748 (1376/5008, 1000G)
del(A)6=0.0000 (0/3816, ALFA) (+ 12 more)
del(A)4=0.0000 (0/3816, ALFA)
delAAA=0.0000 (0/3816, ALFA)
delAA=0.0000 (0/3816, ALFA)
delA=0.0000 (0/3816, ALFA)
dupA=0.0000 (0/3816, ALFA)
dupAA=0.0000 (0/3816, ALFA)
dupAAA=0.0000 (0/3816, ALFA)
dup(A)4=0.0000 (0/3816, ALFA)
dup(A)5=0.0000 (0/3816, ALFA)
dup(A)6=0.0000 (0/3816, ALFA)
dup(A)7=0.0000 (0/3816, ALFA)
dup(A)10=0.0000 (0/3816, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TMEM50B : Intron Variant
Publications
0 citations
Genomic View
See rs on genome
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
TopMed Global Study-wide 264690 (A)16=0.999996 del(A)6=0.000004
1000Genomes Global Study-wide 5008 -

No frequency provided

dup(A)5=0.2748
1000Genomes African Sub 1322 -

No frequency provided

dup(A)5=0.0946
1000Genomes East Asian Sub 1008 -

No frequency provided

dup(A)5=0.1776
1000Genomes Europe Sub 1006 -

No frequency provided

dup(A)5=0.5060
1000Genomes South Asian Sub 978 -

No frequency provided

dup(A)5=0.324
1000Genomes American Sub 694 -

No frequency provided

dup(A)5=0.354
Allele Frequency Aggregator Total Global 3816 (A)16=1.0000 del(A)6=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, dup(A)7=0.0000, dup(A)10=0.0000
Allele Frequency Aggregator African Sub 1902 (A)16=1.0000 del(A)6=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, dup(A)7=0.0000, dup(A)10=0.0000
Allele Frequency Aggregator European Sub 1338 (A)16=1.0000 del(A)6=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, dup(A)7=0.0000, dup(A)10=0.0000
Allele Frequency Aggregator Latin American 2 Sub 250 (A)16=1.000 del(A)6=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, dup(A)7=0.000, dup(A)10=0.000
Allele Frequency Aggregator Other Sub 170 (A)16=1.000 del(A)6=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, dup(A)7=0.000, dup(A)10=0.000
Allele Frequency Aggregator Asian Sub 82 (A)16=1.00 del(A)6=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, dup(A)7=0.00, dup(A)10=0.00
Allele Frequency Aggregator Latin American 1 Sub 54 (A)16=1.00 del(A)6=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, dup(A)7=0.00, dup(A)10=0.00
Allele Frequency Aggregator South Asian Sub 20 (A)16=1.00 del(A)6=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, dup(A)7=0.00, dup(A)10=0.00
Help

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

Genomic Placements
Sequence name Change
GRCh38.p14 chr 21 NC_000021.9:g.33468077_33468082del
GRCh38.p14 chr 21 NC_000021.9:g.33468079_33468082del
GRCh38.p14 chr 21 NC_000021.9:g.33468080_33468082del
GRCh38.p14 chr 21 NC_000021.9:g.33468081_33468082del
GRCh38.p14 chr 21 NC_000021.9:g.33468082del
GRCh38.p14 chr 21 NC_000021.9:g.33468082dup
GRCh38.p14 chr 21 NC_000021.9:g.33468081_33468082dup
GRCh38.p14 chr 21 NC_000021.9:g.33468080_33468082dup
GRCh38.p14 chr 21 NC_000021.9:g.33468079_33468082dup
GRCh38.p14 chr 21 NC_000021.9:g.33468078_33468082dup
GRCh38.p14 chr 21 NC_000021.9:g.33468077_33468082dup
GRCh38.p14 chr 21 NC_000021.9:g.33468076_33468082dup
GRCh38.p14 chr 21 NC_000021.9:g.33468073_33468082dup
GRCh37.p13 chr 21 NC_000021.8:g.34840384_34840389del
GRCh37.p13 chr 21 NC_000021.8:g.34840386_34840389del
GRCh37.p13 chr 21 NC_000021.8:g.34840387_34840389del
GRCh37.p13 chr 21 NC_000021.8:g.34840388_34840389del
GRCh37.p13 chr 21 NC_000021.8:g.34840389del
GRCh37.p13 chr 21 NC_000021.8:g.34840389dup
GRCh37.p13 chr 21 NC_000021.8:g.34840388_34840389dup
GRCh37.p13 chr 21 NC_000021.8:g.34840387_34840389dup
GRCh37.p13 chr 21 NC_000021.8:g.34840386_34840389dup
GRCh37.p13 chr 21 NC_000021.8:g.34840385_34840389dup
GRCh37.p13 chr 21 NC_000021.8:g.34840384_34840389dup
GRCh37.p13 chr 21 NC_000021.8:g.34840383_34840389dup
GRCh37.p13 chr 21 NC_000021.8:g.34840380_34840389dup
IFNGR2 RefSeqGene (LRG_67) NG_007570.2:g.88086_88091del
IFNGR2 RefSeqGene (LRG_67) NG_007570.2:g.88088_88091del
IFNGR2 RefSeqGene (LRG_67) NG_007570.2:g.88089_88091del
IFNGR2 RefSeqGene (LRG_67) NG_007570.2:g.88090_88091del
IFNGR2 RefSeqGene (LRG_67) NG_007570.2:g.88091del
IFNGR2 RefSeqGene (LRG_67) NG_007570.2:g.88091dup
IFNGR2 RefSeqGene (LRG_67) NG_007570.2:g.88090_88091dup
IFNGR2 RefSeqGene (LRG_67) NG_007570.2:g.88089_88091dup
IFNGR2 RefSeqGene (LRG_67) NG_007570.2:g.88088_88091dup
IFNGR2 RefSeqGene (LRG_67) NG_007570.2:g.88087_88091dup
IFNGR2 RefSeqGene (LRG_67) NG_007570.2:g.88086_88091dup
IFNGR2 RefSeqGene (LRG_67) NG_007570.2:g.88085_88091dup
IFNGR2 RefSeqGene (LRG_67) NG_007570.2:g.88082_88091dup
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1 NW_003315970.2:g.62656_62661del
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1 NW_003315970.2:g.62658_62661del
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1 NW_003315970.2:g.62659_62661del
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1 NW_003315970.2:g.62660_62661del
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1 NW_003315970.2:g.62661del
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1 NW_003315970.2:g.62661dup
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1 NW_003315970.2:g.62660_62661dup
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1 NW_003315970.2:g.62659_62661dup
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1 NW_003315970.2:g.62658_62661dup
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1 NW_003315970.2:g.62657_62661dup
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1 NW_003315970.2:g.62656_62661dup
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1 NW_003315970.2:g.62655_62661dup
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1 NW_003315970.2:g.62652_62661dup
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1 NW_003315970.1:g.62657_62662del
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1 NW_003315970.1:g.62659_62662del
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1 NW_003315970.1:g.62660_62662del
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1 NW_003315970.1:g.62661_62662del
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1 NW_003315970.1:g.62662del
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1 NW_003315970.1:g.62662dup
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1 NW_003315970.1:g.62661_62662dup
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1 NW_003315970.1:g.62660_62662dup
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1 NW_003315970.1:g.62659_62662dup
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1 NW_003315970.1:g.62658_62662dup
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1 NW_003315970.1:g.62657_62662dup
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1 NW_003315970.1:g.62656_62662dup
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1 NW_003315970.1:g.62653_62662dup
Gene: TMEM50B, transmembrane protein 50B (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TMEM50B transcript variant 1 NM_006134.7:c.99+715_99+7…

NM_006134.7:c.99+715_99+720del

N/A Intron Variant
TMEM50B transcript variant 2 NR_040016.2:n. N/A Intron Variant
TMEM50B transcript variant X1 XM_011529746.3:c.99+715_9…

XM_011529746.3:c.99+715_99+720del

N/A Intron Variant
TMEM50B transcript variant X2 XM_047440988.1:c.99+715_9…

XM_047440988.1:c.99+715_99+720del

N/A Intron Variant
TMEM50B transcript variant X3 XM_047440989.1:c.99+715_9…

XM_047440989.1:c.99+715_99+720del

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)16= del(A)6 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)5 dup(A)6 dup(A)7 dup(A)10
GRCh38.p14 chr 21 NC_000021.9:g.33468067_33468082= NC_000021.9:g.33468077_33468082del NC_000021.9:g.33468079_33468082del NC_000021.9:g.33468080_33468082del NC_000021.9:g.33468081_33468082del NC_000021.9:g.33468082del NC_000021.9:g.33468082dup NC_000021.9:g.33468081_33468082dup NC_000021.9:g.33468080_33468082dup NC_000021.9:g.33468079_33468082dup NC_000021.9:g.33468078_33468082dup NC_000021.9:g.33468077_33468082dup NC_000021.9:g.33468076_33468082dup NC_000021.9:g.33468073_33468082dup
GRCh37.p13 chr 21 NC_000021.8:g.34840374_34840389= NC_000021.8:g.34840384_34840389del NC_000021.8:g.34840386_34840389del NC_000021.8:g.34840387_34840389del NC_000021.8:g.34840388_34840389del NC_000021.8:g.34840389del NC_000021.8:g.34840389dup NC_000021.8:g.34840388_34840389dup NC_000021.8:g.34840387_34840389dup NC_000021.8:g.34840386_34840389dup NC_000021.8:g.34840385_34840389dup NC_000021.8:g.34840384_34840389dup NC_000021.8:g.34840383_34840389dup NC_000021.8:g.34840380_34840389dup
IFNGR2 RefSeqGene (LRG_67) NG_007570.2:g.88076_88091= NG_007570.2:g.88086_88091del NG_007570.2:g.88088_88091del NG_007570.2:g.88089_88091del NG_007570.2:g.88090_88091del NG_007570.2:g.88091del NG_007570.2:g.88091dup NG_007570.2:g.88090_88091dup NG_007570.2:g.88089_88091dup NG_007570.2:g.88088_88091dup NG_007570.2:g.88087_88091dup NG_007570.2:g.88086_88091dup NG_007570.2:g.88085_88091dup NG_007570.2:g.88082_88091dup
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1 NW_003315970.2:g.62640_62661= NW_003315970.2:g.62656_62661del NW_003315970.2:g.62658_62661del NW_003315970.2:g.62659_62661del NW_003315970.2:g.62660_62661del NW_003315970.2:g.62661del NW_003315970.2:g.62661dup NW_003315970.2:g.62660_62661dup NW_003315970.2:g.62659_62661dup NW_003315970.2:g.62658_62661dup NW_003315970.2:g.62657_62661dup NW_003315970.2:g.62656_62661dup NW_003315970.2:g.62655_62661dup NW_003315970.2:g.62652_62661dup
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1 NW_003315970.1:g.62641_62662= NW_003315970.1:g.62657_62662del NW_003315970.1:g.62659_62662del NW_003315970.1:g.62660_62662del NW_003315970.1:g.62661_62662del NW_003315970.1:g.62662del NW_003315970.1:g.62662dup NW_003315970.1:g.62661_62662dup NW_003315970.1:g.62660_62662dup NW_003315970.1:g.62659_62662dup NW_003315970.1:g.62658_62662dup NW_003315970.1:g.62657_62662dup NW_003315970.1:g.62656_62662dup NW_003315970.1:g.62653_62662dup
TMEM50B transcript variant 1 NM_006134.6:c.99+720= NM_006134.6:c.99+715_99+720del NM_006134.6:c.99+717_99+720del NM_006134.6:c.99+718_99+720del NM_006134.6:c.99+719_99+720del NM_006134.6:c.99+720del NM_006134.6:c.99+720dup NM_006134.6:c.99+719_99+720dup NM_006134.6:c.99+718_99+720dup NM_006134.6:c.99+717_99+720dup NM_006134.6:c.99+716_99+720dup NM_006134.6:c.99+715_99+720dup NM_006134.6:c.99+714_99+720dup NM_006134.6:c.99+711_99+720dup
TMEM50B transcript variant 1 NM_006134.7:c.99+720= NM_006134.7:c.99+715_99+720del NM_006134.7:c.99+717_99+720del NM_006134.7:c.99+718_99+720del NM_006134.7:c.99+719_99+720del NM_006134.7:c.99+720del NM_006134.7:c.99+720dup NM_006134.7:c.99+719_99+720dup NM_006134.7:c.99+718_99+720dup NM_006134.7:c.99+717_99+720dup NM_006134.7:c.99+716_99+720dup NM_006134.7:c.99+715_99+720dup NM_006134.7:c.99+714_99+720dup NM_006134.7:c.99+711_99+720dup
TMEM50B transcript variant X1 XM_011529746.3:c.99+720= XM_011529746.3:c.99+715_99+720del XM_011529746.3:c.99+717_99+720del XM_011529746.3:c.99+718_99+720del XM_011529746.3:c.99+719_99+720del XM_011529746.3:c.99+720del XM_011529746.3:c.99+720dup XM_011529746.3:c.99+719_99+720dup XM_011529746.3:c.99+718_99+720dup XM_011529746.3:c.99+717_99+720dup XM_011529746.3:c.99+716_99+720dup XM_011529746.3:c.99+715_99+720dup XM_011529746.3:c.99+714_99+720dup XM_011529746.3:c.99+711_99+720dup
TMEM50B transcript variant X2 XM_047440988.1:c.99+720= XM_047440988.1:c.99+715_99+720del XM_047440988.1:c.99+717_99+720del XM_047440988.1:c.99+718_99+720del XM_047440988.1:c.99+719_99+720del XM_047440988.1:c.99+720del XM_047440988.1:c.99+720dup XM_047440988.1:c.99+719_99+720dup XM_047440988.1:c.99+718_99+720dup XM_047440988.1:c.99+717_99+720dup XM_047440988.1:c.99+716_99+720dup XM_047440988.1:c.99+715_99+720dup XM_047440988.1:c.99+714_99+720dup XM_047440988.1:c.99+711_99+720dup
TMEM50B transcript variant X3 XM_047440989.1:c.99+720= XM_047440989.1:c.99+715_99+720del XM_047440989.1:c.99+717_99+720del XM_047440989.1:c.99+718_99+720del XM_047440989.1:c.99+719_99+720del XM_047440989.1:c.99+720del XM_047440989.1:c.99+720dup XM_047440989.1:c.99+719_99+720dup XM_047440989.1:c.99+718_99+720dup XM_047440989.1:c.99+717_99+720dup XM_047440989.1:c.99+716_99+720dup XM_047440989.1:c.99+715_99+720dup XM_047440989.1:c.99+714_99+720dup XM_047440989.1:c.99+711_99+720dup
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, 30 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss4288683 Jan 05, 2002 (102)
2 HUMANGENOME_JCVI ss95750408 Feb 06, 2009 (130)
3 BCMHGSC_JDW ss103864701 Dec 01, 2009 (137)
4 PJP ss295066466 May 09, 2011 (137)
5 PJP ss295066467 May 09, 2011 (137)
6 SSMP ss664505151 Apr 01, 2015 (144)
7 BILGI_BIOE ss666761658 Apr 25, 2013 (138)
8 1000GENOMES ss1378770908 Aug 21, 2014 (142)
9 EVA_UK10K_ALSPAC ss1709489759 Apr 01, 2015 (144)
10 EVA_UK10K_ALSPAC ss1709489761 Apr 01, 2015 (144)
11 EVA_UK10K_TWINSUK ss1709493146 Apr 01, 2015 (144)
12 EVA_UK10K_TWINSUK ss1709493147 Apr 01, 2015 (144)
13 SWEGEN ss3018840449 Nov 08, 2017 (151)
14 SWEGEN ss3018840450 Nov 08, 2017 (151)
15 SWEGEN ss3018840451 Nov 08, 2017 (151)
16 SWEGEN ss3018840452 Nov 08, 2017 (151)
17 SWEGEN ss3018840453 Nov 08, 2017 (151)
18 URBANLAB ss3651107941 Oct 12, 2018 (152)
19 EVA_DECODE ss3707669370 Jul 13, 2019 (153)
20 EVA_DECODE ss3707669371 Jul 13, 2019 (153)
21 EVA_DECODE ss3707669372 Jul 13, 2019 (153)
22 EVA_DECODE ss3707669373 Jul 13, 2019 (153)
23 EVA_DECODE ss3707669374 Jul 13, 2019 (153)
24 KHV_HUMAN_GENOMES ss3822236204 Jul 13, 2019 (153)
25 EVA ss3835857807 Apr 27, 2020 (154)
26 VINODS ss4034515988 Apr 27, 2021 (155)
27 GNOMAD ss4359817852 Apr 27, 2021 (155)
28 GNOMAD ss4359817853 Apr 27, 2021 (155)
29 GNOMAD ss4359817854 Apr 27, 2021 (155)
30 GNOMAD ss4359817855 Apr 27, 2021 (155)
31 GNOMAD ss4359817856 Apr 27, 2021 (155)
32 GNOMAD ss4359817857 Apr 27, 2021 (155)
33 GNOMAD ss4359817858 Apr 27, 2021 (155)
34 GNOMAD ss4359817861 Apr 27, 2021 (155)
35 GNOMAD ss4359817862 Apr 27, 2021 (155)
36 GNOMAD ss4359817863 Apr 27, 2021 (155)
37 GNOMAD ss4359817864 Apr 27, 2021 (155)
38 TOPMED ss5100592271 Apr 27, 2021 (155)
39 TOMMO_GENOMICS ss5231393941 Apr 27, 2021 (155)
40 TOMMO_GENOMICS ss5231393942 Apr 27, 2021 (155)
41 TOMMO_GENOMICS ss5231393943 Apr 27, 2021 (155)
42 TOMMO_GENOMICS ss5231393944 Apr 27, 2021 (155)
43 TOMMO_GENOMICS ss5231393945 Apr 27, 2021 (155)
44 TOMMO_GENOMICS ss5231393946 Apr 27, 2021 (155)
45 1000G_HIGH_COVERAGE ss5310112492 Oct 13, 2022 (156)
46 1000G_HIGH_COVERAGE ss5310112493 Oct 13, 2022 (156)
47 1000G_HIGH_COVERAGE ss5310112494 Oct 13, 2022 (156)
48 1000G_HIGH_COVERAGE ss5310112495 Oct 13, 2022 (156)
49 1000G_HIGH_COVERAGE ss5310112496 Oct 13, 2022 (156)
50 1000G_HIGH_COVERAGE ss5310112497 Oct 13, 2022 (156)
51 HUGCELL_USP ss5502169320 Oct 13, 2022 (156)
52 HUGCELL_USP ss5502169321 Oct 13, 2022 (156)
53 HUGCELL_USP ss5502169322 Oct 13, 2022 (156)
54 HUGCELL_USP ss5502169323 Oct 13, 2022 (156)
55 HUGCELL_USP ss5502169324 Oct 13, 2022 (156)
56 TOMMO_GENOMICS ss5791870071 Oct 13, 2022 (156)
57 TOMMO_GENOMICS ss5791870072 Oct 13, 2022 (156)
58 TOMMO_GENOMICS ss5791870073 Oct 13, 2022 (156)
59 TOMMO_GENOMICS ss5791870074 Oct 13, 2022 (156)
60 TOMMO_GENOMICS ss5791870075 Oct 13, 2022 (156)
61 TOMMO_GENOMICS ss5791870076 Oct 13, 2022 (156)
62 EVA ss5838997037 Oct 13, 2022 (156)
63 EVA ss5838997038 Oct 13, 2022 (156)
64 1000Genomes NC_000021.8 - 34840374 Oct 12, 2018 (152)
65 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 44092644 (NC_000021.8:34840373::AAAAA 1147/3854)
Row 44092645 (NC_000021.8:34840373::AAAA 584/3854)

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

Submission ignored due to conflicting rows:
Row 44092644 (NC_000021.8:34840373::AAAAA 1147/3854)
Row 44092645 (NC_000021.8:34840373::AAAA 584/3854)

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

Submission ignored due to conflicting rows:
Row 562351113 (NC_000021.9:33468066::A 4914/120452)
Row 562351114 (NC_000021.9:33468066::AA 129/120458)
Row 562351115 (NC_000021.9:33468066::AAA 12/120464)...

- Apr 27, 2021 (155)
68 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 562351113 (NC_000021.9:33468066::A 4914/120452)
Row 562351114 (NC_000021.9:33468066::AA 129/120458)
Row 562351115 (NC_000021.9:33468066::AAA 12/120464)...

- Apr 27, 2021 (155)
69 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 562351113 (NC_000021.9:33468066::A 4914/120452)
Row 562351114 (NC_000021.9:33468066::AA 129/120458)
Row 562351115 (NC_000021.9:33468066::AAA 12/120464)...

- Apr 27, 2021 (155)
70 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 562351113 (NC_000021.9:33468066::A 4914/120452)
Row 562351114 (NC_000021.9:33468066::AA 129/120458)
Row 562351115 (NC_000021.9:33468066::AAA 12/120464)...

- Apr 27, 2021 (155)
71 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 562351113 (NC_000021.9:33468066::A 4914/120452)
Row 562351114 (NC_000021.9:33468066::AA 129/120458)
Row 562351115 (NC_000021.9:33468066::AAA 12/120464)...

- Apr 27, 2021 (155)
72 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 562351113 (NC_000021.9:33468066::A 4914/120452)
Row 562351114 (NC_000021.9:33468066::AA 129/120458)
Row 562351115 (NC_000021.9:33468066::AAA 12/120464)...

- Apr 27, 2021 (155)
73 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 562351113 (NC_000021.9:33468066::A 4914/120452)
Row 562351114 (NC_000021.9:33468066::AA 129/120458)
Row 562351115 (NC_000021.9:33468066::AAA 12/120464)...

- Apr 27, 2021 (155)
74 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 562351113 (NC_000021.9:33468066::A 4914/120452)
Row 562351114 (NC_000021.9:33468066::AA 129/120458)
Row 562351115 (NC_000021.9:33468066::AAA 12/120464)...

- Apr 27, 2021 (155)
75 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 562351113 (NC_000021.9:33468066::A 4914/120452)
Row 562351114 (NC_000021.9:33468066::AA 129/120458)
Row 562351115 (NC_000021.9:33468066::AAA 12/120464)...

- Apr 27, 2021 (155)
76 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 562351113 (NC_000021.9:33468066::A 4914/120452)
Row 562351114 (NC_000021.9:33468066::AA 129/120458)
Row 562351115 (NC_000021.9:33468066::AAA 12/120464)...

- Apr 27, 2021 (155)
77 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 562351113 (NC_000021.9:33468066::A 4914/120452)
Row 562351114 (NC_000021.9:33468066::AA 129/120458)
Row 562351115 (NC_000021.9:33468066::AAA 12/120464)...

- Apr 27, 2021 (155)
78 8.3KJPN

Submission ignored due to conflicting rows:
Row 89363248 (NC_000021.8:34840373::AAAAA 1941/16720)
Row 89363249 (NC_000021.8:34840373::AAAAAA 511/16720)
Row 89363250 (NC_000021.8:34840373::A 155/16720)...

- Apr 27, 2021 (155)
79 8.3KJPN

Submission ignored due to conflicting rows:
Row 89363248 (NC_000021.8:34840373::AAAAA 1941/16720)
Row 89363249 (NC_000021.8:34840373::AAAAAA 511/16720)
Row 89363250 (NC_000021.8:34840373::A 155/16720)...

- Apr 27, 2021 (155)
80 8.3KJPN

Submission ignored due to conflicting rows:
Row 89363248 (NC_000021.8:34840373::AAAAA 1941/16720)
Row 89363249 (NC_000021.8:34840373::AAAAAA 511/16720)
Row 89363250 (NC_000021.8:34840373::A 155/16720)...

- Apr 27, 2021 (155)
81 8.3KJPN

Submission ignored due to conflicting rows:
Row 89363248 (NC_000021.8:34840373::AAAAA 1941/16720)
Row 89363249 (NC_000021.8:34840373::AAAAAA 511/16720)
Row 89363250 (NC_000021.8:34840373::A 155/16720)...

- Apr 27, 2021 (155)
82 8.3KJPN

Submission ignored due to conflicting rows:
Row 89363248 (NC_000021.8:34840373::AAAAA 1941/16720)
Row 89363249 (NC_000021.8:34840373::AAAAAA 511/16720)
Row 89363250 (NC_000021.8:34840373::A 155/16720)...

- Apr 27, 2021 (155)
83 8.3KJPN

Submission ignored due to conflicting rows:
Row 89363248 (NC_000021.8:34840373::AAAAA 1941/16720)
Row 89363249 (NC_000021.8:34840373::AAAAAA 511/16720)
Row 89363250 (NC_000021.8:34840373::A 155/16720)...

- Apr 27, 2021 (155)
84 14KJPN

Submission ignored due to conflicting rows:
Row 125707175 (NC_000021.9:33468066::AAAAA 3734/28246)
Row 125707176 (NC_000021.9:33468066::AAAAAA 1016/28246)
Row 125707177 (NC_000021.9:33468066::A 250/28246)...

- Oct 13, 2022 (156)
85 14KJPN

Submission ignored due to conflicting rows:
Row 125707175 (NC_000021.9:33468066::AAAAA 3734/28246)
Row 125707176 (NC_000021.9:33468066::AAAAAA 1016/28246)
Row 125707177 (NC_000021.9:33468066::A 250/28246)...

- Oct 13, 2022 (156)
86 14KJPN

Submission ignored due to conflicting rows:
Row 125707175 (NC_000021.9:33468066::AAAAA 3734/28246)
Row 125707176 (NC_000021.9:33468066::AAAAAA 1016/28246)
Row 125707177 (NC_000021.9:33468066::A 250/28246)...

- Oct 13, 2022 (156)
87 14KJPN

Submission ignored due to conflicting rows:
Row 125707175 (NC_000021.9:33468066::AAAAA 3734/28246)
Row 125707176 (NC_000021.9:33468066::AAAAAA 1016/28246)
Row 125707177 (NC_000021.9:33468066::A 250/28246)...

- Oct 13, 2022 (156)
88 14KJPN

Submission ignored due to conflicting rows:
Row 125707175 (NC_000021.9:33468066::AAAAA 3734/28246)
Row 125707176 (NC_000021.9:33468066::AAAAAA 1016/28246)
Row 125707177 (NC_000021.9:33468066::A 250/28246)...

- Oct 13, 2022 (156)
89 14KJPN

Submission ignored due to conflicting rows:
Row 125707175 (NC_000021.9:33468066::AAAAA 3734/28246)
Row 125707176 (NC_000021.9:33468066::AAAAAA 1016/28246)
Row 125707177 (NC_000021.9:33468066::A 250/28246)...

- Oct 13, 2022 (156)
90 TopMed NC_000021.9 - 33468067 Apr 27, 2021 (155)
91 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 44092644 (NC_000021.8:34840373::AAAAA 1065/3708)
Row 44092645 (NC_000021.8:34840373::AAAA 544/3708)

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

Submission ignored due to conflicting rows:
Row 44092644 (NC_000021.8:34840373::AAAAA 1065/3708)
Row 44092645 (NC_000021.8:34840373::AAAA 544/3708)

- Oct 12, 2018 (152)
93 ALFA NC_000021.9 - 33468067 Apr 27, 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)
rs34819737 Jul 30, 2012 (137)
rs67466761 Jul 30, 2012 (137)
rs67466762 Feb 27, 2009 (130)
rs79943976 Jul 30, 2012 (137)
rs145570595 May 04, 2012 (137)
rs150974751 May 11, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
375701217, ss5100592271 NC_000021.9:33468066:AAAAAA: NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
2986501304 NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAA

NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
ss4359817864 NC_000021.9:33468066:AAAA: NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
2986501304 NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4359817863 NC_000021.9:33468066:AAA: NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
2986501304 NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4359817862 NC_000021.9:33468066:AA: NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
2986501304 NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss5231393944 NC_000021.8:34840373:A: NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4359817861, ss5310112497, ss5502169323, ss5791870074 NC_000021.9:33468066:A: NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
2986501304 NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3018840449, ss5231393943 NC_000021.8:34840373::A NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3707669374, ss4359817852, ss5310112494, ss5502169324, ss5791870073 NC_000021.9:33468066::A NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
2986501304 NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3018840453 NC_000021.8:34840373::AA NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4359817853, ss5310112496 NC_000021.9:33468066::AA NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
2986501304 NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3707669373, ss4359817854 NC_000021.9:33468066::AAA NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
2986501304 NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss1709489761, ss1709493147, ss3018840451, ss5231393945, ss5838997038 NC_000021.8:34840373::AAAA NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3707669372, ss4359817855, ss5310112493, ss5502169322, ss5791870075 NC_000021.9:33468066::AAAA NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
2986501304 NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss103864701 NT_011512.11:20502257::AAAA NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss295066466 NC_000021.7:33762244::AAAAA NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss295066467 NC_000021.7:33762255::AAAAA NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
79678953, ss664505151, ss666761658, ss1378770908, ss1709489759, ss1709493146, ss3018840450, ss3835857807, ss5231393941, ss5838997037 NC_000021.8:34840373::AAAAA NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3651107941, ss3707669371, ss3822236204, ss4359817856, ss5310112492, ss5502169320, ss5791870071 NC_000021.9:33468066::AAAAA NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
2986501304 NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss4288683, ss95750408 NT_011512.11:20502260::AAAAA NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3018840452, ss5231393942 NC_000021.8:34840373::AAAAAA NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss3707669370, ss4359817857, ss5310112495, ss5502169321, ss5791870072 NC_000021.9:33468066::AAAAAA NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
2986501304 NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss5231393946 NC_000021.8:34840373::AAAAAAA NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4359817858, ss5791870076 NC_000021.9:33468066::AAAAAAA NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
2986501304 NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
2986501304 NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000021.9:33468066:AAAAAAAAAAAAA…

NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(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 rs3057402

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