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dbSNP Short Genetic Variations

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.


Current Build 152

Released October 2, 2018

Homo sapiens
chr5:104633966 (GRCh38.p12) 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.

Variation Type
SNV Single Nucleotide Variation
G=0.29691 (37283/125568, TOPMED)
G=0.2981 (9224/30944, GnomAD)
G=0.220 (1104/5008, 1000G) (+ 3 more)
G=0.285 (1278/4480, Estonian)
G=0.312 (1202/3854, ALSPAC)
G=0.298 (1106/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LOC105379109 : Intron Variant
0 citations
Genomic View
See rs on genome

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.p12 chr 5 NC_000005.10:g.104633966A>G
GRCh37.p13 chr 5 NC_000005.9:g.103969667A>G
Gene: LOC105379109, uncharacterized LOC105379109 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC105379109 transcript variant X5 XR_948647.1:n. N/A Intron Variant
LOC105379109 transcript variant X1 XR_948638.2:n. N/A Genic Downstream Transcript Variant
LOC105379109 transcript variant X2 XR_948639.2:n. N/A Genic Downstream Transcript Variant
LOC105379109 transcript variant X3 XR_948640.2:n. N/A Genic Downstream Transcript Variant
LOC105379109 transcript variant X4 XR_948641.3:n. N/A Genic Downstream Transcript Variant
LOC105379109 transcript variant X6 XR_948644.2:n. N/A Genic Downstream Transcript Variant
LOC105379109 transcript variant X7 XR_948648.2:n. N/A Genic Downstream Transcript Variant

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

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").

Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 A=0.70309 G=0.29691
gnomAD - Genomes Global Study-wide 30944 A=0.7019 G=0.2981
gnomAD - Genomes European Sub 18478 A=0.7163 G=0.2837
gnomAD - Genomes African Sub 8724 A=0.607 G=0.393
gnomAD - Genomes East Asian Sub 1622 A=0.998 G=0.002
gnomAD - Genomes Other Sub 980 A=0.72 G=0.28
gnomAD - Genomes American Sub 838 A=0.78 G=0.22
gnomAD - Genomes Ashkenazi Jewish Sub 302 A=0.72 G=0.28
1000Genomes Global Study-wide 5008 A=0.780 G=0.220
1000Genomes African Sub 1322 A=0.599 G=0.401
1000Genomes East Asian Sub 1008 A=1.000 G=0.000
1000Genomes Europe Sub 1006 A=0.697 G=0.303
1000Genomes South Asian Sub 978 A=0.86 G=0.14
1000Genomes American Sub 694 A=0.82 G=0.18
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.715 G=0.285
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.688 G=0.312
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.702 G=0.298

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= G Note
GRCh38.p12 chr 5 NC_000005.10:g.104633966A= NC_000005.10:g.10463396...


GRCh37.p13 chr 5 NC_000005.9:g.103969667A= NC_000005.9:g.103969667A>G

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#.

39 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss417121 Jul 12, 2000 (79)
2 KWOK ss418128 Jul 12, 2000 (85)
3 KWOK ss1085576 Oct 04, 2000 (86)
4 KWOK ss1085791 Oct 04, 2000 (86)
5 KWOK ss1776149 Oct 18, 2000 (87)
6 KWOK ss1776340 Oct 18, 2000 (87)
7 SC_JCM ss3684818 Sep 28, 2001 (100)
8 BCM_SSAHASNP ss10263475 Jul 11, 2003 (116)
9 CSHL-HAPMAP ss19640067 Feb 27, 2004 (120)
10 ABI ss42559522 Mar 14, 2006 (126)
11 BCMHGSC_JDW ss93194119 Mar 24, 2008 (129)
12 1000GENOMES ss109277701 Jan 23, 2009 (130)
13 ENSEMBL ss143327084 Dec 01, 2009 (131)
14 COMPLETE_GENOMICS ss162508099 Jul 04, 2010 (132)
15 BCM-HGSC-SUB ss206757932 Jul 04, 2010 (132)
16 1000GENOMES ss221851760 Jul 14, 2010 (132)
17 1000GENOMES ss233069341 Jul 14, 2010 (132)
18 GMI ss285230933 Apr 25, 2013 (138)
19 PJP ss293424485 May 09, 2011 (134)
20 TISHKOFF ss558588669 Apr 25, 2013 (138)
21 SSMP ss652473856 Apr 25, 2013 (138)
22 EVA-GONL ss981907236 Aug 21, 2014 (142)
23 JMKIDD_LAB ss1072881702 Aug 21, 2014 (142)
24 1000GENOMES ss1316394824 Aug 21, 2014 (142)
25 DDI ss1430443328 Apr 01, 2015 (144)
26 EVA_GENOME_DK ss1581266633 Apr 01, 2015 (144)
27 EVA_DECODE ss1591427421 Apr 01, 2015 (144)
28 EVA_UK10K_ALSPAC ss1613573544 Apr 01, 2015 (144)
29 EVA_UK10K_TWINSUK ss1656567577 Apr 01, 2015 (144)
30 WEILL_CORNELL_DGM ss1925159495 Feb 12, 2016 (147)
31 JJLAB ss2023186004 Sep 14, 2016 (149)
32 USC_VALOUEV ss2151343548 Dec 20, 2016 (150)
33 HUMAN_LONGEVITY ss2276422903 Dec 20, 2016 (150)
34 TOPMED ss2444699915 Dec 20, 2016 (150)
35 GNOMAD ss2828434680 Nov 08, 2017 (151)
36 SWEGEN ss2997467983 Nov 08, 2017 (151)
37 BIOINF_KMB_FNS_UNIBA ss3025376620 Nov 08, 2017 (151)
38 CSHL ss3346535093 Nov 08, 2017 (151)
39 TOPMED ss3473282903 Nov 08, 2017 (151)
40 1000Genomes NC_000005.9 - 103969667 Oct 12, 2018 (152)
41 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 103969667 Oct 12, 2018 (152)
42 Genetic variation in the Estonian population NC_000005.9 - 103969667 Oct 12, 2018 (152)
43 gnomAD - Genomes NC_000005.9 - 103969667 Oct 12, 2018 (152)
44 TopMed NC_000005.10 - 104633966 Oct 12, 2018 (152)
45 UK 10K study - Twins NC_000005.9 - 103969667 Oct 12, 2018 (152)

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)
rs327002 Sep 19, 2000 (85)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss93194119, ss109277701, ss162508099, ss206757932, ss285230933, ss293424485, ss1591427421 NC_000005.8:103997565:A:G NC_000005.10:104633965:A:G (self)
28044721, 15594088, 11097566, 169062436, 15594088, ss221851760, ss233069341, ss558588669, ss652473856, ss981907236, ss1072881702, ss1316394824, ss1430443328, ss1581266633, ss1613573544, ss1656567577, ss1925159495, ss2023186004, ss2151343548, ss2444699915, ss2828434680, ss2997467983, ss3346535093 NC_000005.9:103969666:A:G NC_000005.10:104633965:A:G (self)
318206470, ss2276422903, ss3025376620, ss3473282903 NC_000005.10:104633965:A:G NC_000005.10:104633965:A:G (self)
ss10263475 NT_034772.4:6384686:A:G NC_000005.10:104633965:A:G (self)
ss19640067 NT_034772.5:6384679:A:G NC_000005.10:104633965:A:G (self)
ss417121, ss418128, ss1085576, ss1085791, ss1776149, ss1776340, ss3684818, ss42559522, ss143327084 NT_034772.6:12283538:A:G NC_000005.10:104633965:A:G (self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs326237

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.post104+4a6ee9c