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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs77184519

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:154138216 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000196 (52/264690, TOPMED)
T=0.000065 (12/183540, ALFA)
T=0.000051 (9/176810, GnomAD_exome) (+ 8 more)
T=0.000187 (26/138802, GnomAD)
T=0.000050 (6/120444, ExAC)
T=0.00033 (26/78698, PAGE_STUDY)
T=0.00004 (1/28256, 14KJPN)
T=0.00006 (1/16760, 8.3KJPN)
T=0.00017 (2/11766, GO-ESP)
T=0.0003 (2/6404, 1000G_30x)
T=0.0004 (2/5008, 1000G)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NUP210L : Missense 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 199898 C=0.999930 T=0.000070
European Sub 167718 C=0.999958 T=0.000042
African Sub 9132 C=0.9995 T=0.0005
African Others Sub 352 C=1.000 T=0.000
African American Sub 8780 C=0.9994 T=0.0006
Asian Sub 6294 C=1.0000 T=0.0000
East Asian Sub 4476 C=1.0000 T=0.0000
Other Asian Sub 1818 C=1.0000 T=0.0000
Latin American 1 Sub 796 C=1.000 T=0.000
Latin American 2 Sub 968 C=0.999 T=0.001
South Asian Sub 280 C=1.000 T=0.000
Other Sub 14710 C=0.99993 T=0.00007


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 C=0.999804 T=0.000196
Allele Frequency Aggregator Total Global 183540 C=0.999935 T=0.000065
Allele Frequency Aggregator European Sub 157610 C=0.999956 T=0.000044
Allele Frequency Aggregator Other Sub 13280 C=0.99992 T=0.00008
Allele Frequency Aggregator Asian Sub 6294 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 4312 C=0.9993 T=0.0007
Allele Frequency Aggregator Latin American 2 Sub 968 C=0.999 T=0.001
Allele Frequency Aggregator Latin American 1 Sub 796 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 280 C=1.000 T=0.000
gnomAD - Exomes Global Study-wide 176810 C=0.999949 T=0.000051
gnomAD - Exomes European Sub 110718 C=0.999991 T=0.000009
gnomAD - Exomes Asian Sub 29482 C=0.99986 T=0.00014
gnomAD - Exomes American Sub 14356 C=0.99993 T=0.00007
gnomAD - Exomes African Sub 10840 C=0.99972 T=0.00028
gnomAD - Exomes Ashkenazi Jewish Sub 7636 C=1.0000 T=0.0000
gnomAD - Exomes Other Sub 3778 C=1.0000 T=0.0000
gnomAD - Genomes Global Study-wide 138802 C=0.999813 T=0.000187
gnomAD - Genomes European Sub 75322 C=0.99995 T=0.00005
gnomAD - Genomes African Sub 41500 C=0.99952 T=0.00048
gnomAD - Genomes American Sub 13398 C=0.99985 T=0.00015
gnomAD - Genomes Ashkenazi Jewish Sub 3320 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3130 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2132 C=1.0000 T=0.0000
ExAC Global Study-wide 120444 C=0.999950 T=0.000050
ExAC Europe Sub 73174 C=1.00000 T=0.00000
ExAC Asian Sub 25102 C=0.99988 T=0.00012
ExAC American Sub 11558 C=0.99991 T=0.00009
ExAC African Sub 9714 C=0.9998 T=0.0002
ExAC Other Sub 896 C=1.000 T=0.000
The PAGE Study Global Study-wide 78698 C=0.99967 T=0.00033
The PAGE Study AfricanAmerican Sub 32514 C=0.99948 T=0.00052
The PAGE Study Mexican Sub 10810 C=0.99991 T=0.00009
The PAGE Study Asian Sub 8318 C=1.0000 T=0.0000
The PAGE Study PuertoRican Sub 7918 C=0.9999 T=0.0001
The PAGE Study NativeHawaiian Sub 4534 C=0.9993 T=0.0007
The PAGE Study Cuban Sub 4228 C=0.9993 T=0.0007
The PAGE Study Dominican Sub 3828 C=1.0000 T=0.0000
The PAGE Study CentralAmerican Sub 2450 C=1.0000 T=0.0000
The PAGE Study SouthAmerican Sub 1982 C=0.9995 T=0.0005
The PAGE Study NativeAmerican Sub 1260 C=1.0000 T=0.0000
The PAGE Study SouthAsian Sub 856 C=1.000 T=0.000
14KJPN JAPANESE Study-wide 28256 C=0.99996 T=0.00004
8.3KJPN JAPANESE Study-wide 16760 C=0.99994 T=0.00006
GO Exome Sequencing Project Global Study-wide 11766 C=0.99983 T=0.00017
GO Exome Sequencing Project European American Sub 8136 C=1.0000 T=0.0000
GO Exome Sequencing Project African American Sub 3630 C=0.9994 T=0.0006
1000Genomes_30x Global Study-wide 6404 C=0.9997 T=0.0003
1000Genomes_30x African Sub 1786 C=0.9994 T=0.0006
1000Genomes_30x Europe Sub 1266 C=1.0000 T=0.0000
1000Genomes_30x South Asian Sub 1202 C=1.0000 T=0.0000
1000Genomes_30x East Asian Sub 1170 C=0.9991 T=0.0009
1000Genomes_30x American Sub 980 C=1.000 T=0.000
1000Genomes Global Study-wide 5008 C=0.9996 T=0.0004
1000Genomes African Sub 1322 C=0.9992 T=0.0008
1000Genomes East Asian Sub 1008 C=0.9990 T=0.0010
1000Genomes Europe Sub 1006 C=1.0000 T=0.0000
1000Genomes South Asian Sub 978 C=1.000 T=0.000
1000Genomes American Sub 694 C=1.000 T=0.000
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.154138216C>T
GRCh37.p13 chr 1 NC_000001.10:g.154110692C>T
Gene: NUP210L, nucleoporin 210 like (minus strand)
Molecule type Change Amino acid[Codon] SO Term
NUP210L transcript variant 1 NM_207308.2:c.740G>A R [CGT] > H [CAT] Coding Sequence Variant
nuclear pore membrane glycoprotein 210-like isoform 1 precursor NP_997191.2:p.Arg247His R (Arg) > H (His) Missense Variant
NUP210L transcript variant 2 NM_001159484.1:c.740G>A R [CGT] > H [CAT] Coding Sequence Variant
nuclear pore membrane glycoprotein 210-like isoform 2 precursor NP_001152956.1:p.Arg247His R (Arg) > H (His) Missense Variant
NUP210L transcript variant X3 XM_011510123.2:c.740G>A R [CGT] > H [CAT] Coding Sequence Variant
nuclear pore membrane glycoprotein 210-like isoform X3 XP_011508425.1:p.Arg247His R (Arg) > H (His) Missense Variant
NUP210L transcript variant X4 XM_011510124.2:c.740G>A R [CGT] > H [CAT] Coding Sequence Variant
nuclear pore membrane glycoprotein 210-like isoform X4 XP_011508426.1:p.Arg247His R (Arg) > H (His) Missense Variant
NUP210L transcript variant X1 XM_017002788.3:c.740G>A R [CGT] > H [CAT] Coding Sequence Variant
nuclear pore membrane glycoprotein 210-like isoform X1 XP_016858277.1:p.Arg247His R (Arg) > H (His) Missense Variant
NUP210L transcript variant X2 XM_011510122.2:c.608G>A R [CGT] > H [CAT] Coding Sequence Variant
nuclear pore membrane glycoprotein 210-like isoform X2 XP_011508424.1:p.Arg203His R (Arg) > H (His) Missense Variant
NUP210L transcript variant X5 XM_017002789.3:c.740G>A R [CGT] > H [CAT] Coding Sequence Variant
nuclear pore membrane glycoprotein 210-like isoform X5 XP_016858278.1:p.Arg247His R (Arg) > H (His) Missense Variant
NUP210L transcript variant X6 XM_047433904.1:c.293G>A R [CGT] > H [CAT] Coding Sequence Variant
nuclear pore membrane glycoprotein 210-like isoform X6 XP_047289860.1:p.Arg98His R (Arg) > H (His) Missense 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 C= T
GRCh38.p14 chr 1 NC_000001.11:g.154138216= NC_000001.11:g.154138216C>T
GRCh37.p13 chr 1 NC_000001.10:g.154110692= NC_000001.10:g.154110692C>T
NUP210L transcript variant 1 NM_207308.3:c.740= NM_207308.3:c.740G>A
NUP210L transcript variant 1 NM_207308.2:c.740= NM_207308.2:c.740G>A
NUP210L transcript variant X1 XM_017002788.3:c.740= XM_017002788.3:c.740G>A
NUP210L transcript variant X1 XM_017002788.2:c.740= XM_017002788.2:c.740G>A
NUP210L transcript variant X1 XM_017002788.1:c.740= XM_017002788.1:c.740G>A
NUP210L transcript variant X5 XM_017002789.3:c.740= XM_017002789.3:c.740G>A
NUP210L transcript variant X5 XM_017002789.2:c.740= XM_017002789.2:c.740G>A
NUP210L transcript variant X5 XM_017002789.1:c.740= XM_017002789.1:c.740G>A
NUP210L transcript variant X2 XM_011510122.2:c.608= XM_011510122.2:c.608G>A
NUP210L transcript variant X2 XM_011510122.1:c.608= XM_011510122.1:c.608G>A
NUP210L transcript variant X3 XM_011510123.2:c.740= XM_011510123.2:c.740G>A
NUP210L transcript variant X3 XM_011510123.1:c.740= XM_011510123.1:c.740G>A
NUP210L transcript variant X4 XM_011510124.2:c.740= XM_011510124.2:c.740G>A
NUP210L transcript variant X4 XM_011510124.1:c.740= XM_011510124.1:c.740G>A
NUP210L transcript variant X6 XM_047433904.1:c.293= XM_047433904.1:c.293G>A
NUP210L transcript variant 2 NM_001159484.1:c.740= NM_001159484.1:c.740G>A
nuclear pore membrane glycoprotein 210-like isoform 1 precursor NP_997191.2:p.Arg247= NP_997191.2:p.Arg247His
nuclear pore membrane glycoprotein 210-like isoform X1 XP_016858277.1:p.Arg247= XP_016858277.1:p.Arg247His
nuclear pore membrane glycoprotein 210-like isoform X5 XP_016858278.1:p.Arg247= XP_016858278.1:p.Arg247His
nuclear pore membrane glycoprotein 210-like isoform X2 XP_011508424.1:p.Arg203= XP_011508424.1:p.Arg203His
nuclear pore membrane glycoprotein 210-like isoform X3 XP_011508425.1:p.Arg247= XP_011508425.1:p.Arg247His
nuclear pore membrane glycoprotein 210-like isoform X4 XP_011508426.1:p.Arg247= XP_011508426.1:p.Arg247His
nuclear pore membrane glycoprotein 210-like isoform X6 XP_047289860.1:p.Arg98= XP_047289860.1:p.Arg98His
nuclear pore membrane glycoprotein 210-like isoform 2 precursor NP_001152956.1:p.Arg247= NP_001152956.1:p.Arg247His
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#.

42 SubSNP, 11 Frequency submissions
No Submitter Submission ID Date (Build)
1 SEATTLESEQ ss159698989 Dec 01, 2009 (131)
2 1000GENOMES ss238379110 Jul 15, 2010 (132)
3 1000GENOMES ss489766442 May 04, 2012 (137)
4 EXOME_CHIP ss491302223 May 04, 2012 (137)
5 NHLBI-ESP ss712336247 Apr 25, 2013 (138)
6 ILLUMINA ss780692751 Sep 08, 2015 (146)
7 ILLUMINA ss783366574 Sep 08, 2015 (146)
8 1000GENOMES ss1292914152 Aug 21, 2014 (142)
9 EVA_EXAC ss1685800505 Apr 01, 2015 (144)
10 ILLUMINA ss1751871972 Sep 08, 2015 (146)
11 ILLUMINA ss1917735243 Feb 12, 2016 (147)
12 ILLUMINA ss1946009395 Feb 12, 2016 (147)
13 ILLUMINA ss1958317162 Feb 12, 2016 (147)
14 HUMAN_LONGEVITY ss2166516855 Dec 20, 2016 (150)
15 GNOMAD ss2731885080 Nov 08, 2017 (151)
16 GNOMAD ss2746448738 Nov 08, 2017 (151)
17 GNOMAD ss2761280833 Nov 08, 2017 (151)
18 AFFY ss2984879135 Nov 08, 2017 (151)
19 ILLUMINA ss3021135845 Nov 08, 2017 (151)
20 ILLUMINA ss3626207714 Oct 11, 2018 (152)
21 ILLUMINA ss3634349672 Oct 11, 2018 (152)
22 ILLUMINA ss3640057029 Oct 11, 2018 (152)
23 ILLUMINA ss3644505352 Oct 11, 2018 (152)
24 ILLUMINA ss3651470011 Oct 11, 2018 (152)
25 ILLUMINA ss3653648324 Oct 11, 2018 (152)
26 ILLUMINA ss3725064999 Jul 12, 2019 (153)
27 ILLUMINA ss3744352471 Jul 12, 2019 (153)
28 ILLUMINA ss3744650582 Jul 12, 2019 (153)
29 EVA ss3746804704 Jul 12, 2019 (153)
30 PAGE_CC ss3770840613 Jul 12, 2019 (153)
31 ILLUMINA ss3772151722 Jul 12, 2019 (153)
32 EVA ss3823662054 Apr 25, 2020 (154)
33 EVA ss3986138579 Apr 25, 2021 (155)
34 TOPMED ss4468195757 Apr 25, 2021 (155)
35 TOMMO_GENOMICS ss5146467993 Apr 25, 2021 (155)
36 1000G_HIGH_COVERAGE ss5244282764 Oct 17, 2022 (156)
37 HUGCELL_USP ss5444877152 Oct 17, 2022 (156)
38 1000G_HIGH_COVERAGE ss5517606050 Oct 17, 2022 (156)
39 TOMMO_GENOMICS ss5673658405 Oct 17, 2022 (156)
40 EVA ss5847556197 Oct 17, 2022 (156)
41 EVA ss5910234174 Oct 17, 2022 (156)
42 EVA ss5938379602 Oct 17, 2022 (156)
43 1000Genomes NC_000001.10 - 154110692 Oct 11, 2018 (152)
44 1000Genomes_30x NC_000001.11 - 154138216 Oct 17, 2022 (156)
45 ExAC NC_000001.10 - 154110692 Oct 11, 2018 (152)
46 gnomAD - Genomes NC_000001.11 - 154138216 Apr 25, 2021 (155)
47 gnomAD - Exomes NC_000001.10 - 154110692 Jul 12, 2019 (153)
48 GO Exome Sequencing Project NC_000001.10 - 154110692 Oct 11, 2018 (152)
49 The PAGE Study NC_000001.11 - 154138216 Jul 12, 2019 (153)
50 8.3KJPN NC_000001.10 - 154110692 Apr 25, 2021 (155)
51 14KJPN NC_000001.11 - 154138216 Oct 17, 2022 (156)
52 TopMed NC_000001.11 - 154138216 Apr 25, 2021 (155)
53 ALFA NC_000001.11 - 154138216 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
3705743, 5018764, 906999, 120653, 4437300, ss238379110, ss489766442, ss491302223, ss712336247, ss780692751, ss783366574, ss1292914152, ss1685800505, ss1751871972, ss1917735243, ss1946009395, ss1958317162, ss2731885080, ss2746448738, ss2761280833, ss2984879135, ss3021135845, ss3626207714, ss3634349672, ss3640057029, ss3644505352, ss3651470011, ss3653648324, ss3744352471, ss3744650582, ss3746804704, ss3772151722, ss3823662054, ss3986138579, ss5146467993, ss5847556197, ss5938379602 NC_000001.10:154110691:C:T NC_000001.11:154138215:C:T (self)
5131985, 26960431, 62082, 7495509, 31802092, 2074597628, ss2166516855, ss3725064999, ss3770840613, ss4468195757, ss5244282764, ss5444877152, ss5517606050, ss5673658405, ss5910234174 NC_000001.11:154138215:C:T NC_000001.11:154138215:C:T (self)
ss159698989 NT_004487.19:5599333:C:T NC_000001.11:154138215:C:T (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 rs77184519

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.post761+d5e8e07