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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 Aliases 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.

rs777720

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr2:195075177 (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.

Alleles
A>C / A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.00000 (0/125568, TOPMED)
A=0.0001 (2/31390, GnomAD)
A=0.000 (0/5008, 1000G) (+ 3 more)
A=0.000 (0/3854, ALSPAC)
A=0.000 (0/3708, TWINSUK)
A=0.00 (0/600, NorthernSweden)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LOC105376755 : Intron Variant
Publications
0 citations
Genomic View
See rs on genome
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.p12 chr 2 NC_000002.12:g.195075177A>C
GRCh38.p12 chr 2 NC_000002.12:g.195075177A>G
GRCh37.p13 chr 2 NC_000002.11:g.195939901A>C
GRCh37.p13 chr 2 NC_000002.11:g.195939901A>G
Gene: LOC105376755, uncharacterized LOC105376755 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC105376755 transcript variant X3 XR_001739836.1:n. N/A Intron Variant
LOC105376755 transcript variant X1 XR_001739834.1:n. N/A Genic Downstream Transcript Variant
LOC105376755 transcript variant X2 XR_001739835.1:n. N/A Genic Downstream Transcript 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

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 125568 A=0.00000 G=1.00000
gnomAD - Genomes Global Study-wide 31390 A=0.0001 G=0.9999
gnomAD - Genomes European Sub 18906 A=0.0001 G=0.9999
gnomAD - Genomes African Sub 8700 A=0.000 G=1.000
gnomAD - Genomes East Asian Sub 1560 A=0.000 G=1.000
gnomAD - Genomes Other Sub 1088 A=0.000 G=1.000
gnomAD - Genomes American Sub 848 A=0.00 G=1.00
gnomAD - Genomes Ashkenazi Jewish Sub 288 A=0.00 G=1.00
1000Genomes Global Study-wide 5008 A=0.000 G=1.000
1000Genomes African Sub 1322 A=0.000 G=1.000
1000Genomes East Asian Sub 1008 A=0.000 G=1.000
1000Genomes Europe Sub 1006 A=0.000 G=1.000
1000Genomes South Asian Sub 978 A=0.00 G=1.00
1000Genomes American Sub 694 A=0.00 G=1.00
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.000 G=1.000
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.000 G=1.000
Northern Sweden ACPOP Study-wide 600 A=0.00 G=1.00
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= C G Note
GRCh38.p12 chr 2 NC_000002.12:g.19...

NC_000002.12:g.195075177=

NC_000002.12:g.19...

NC_000002.12:g.195075177A>C

NC_000002.12:g.19...

NC_000002.12:g.195075177A>G

GRCh37.p13 chr 2 NC_000002.11:g.19...

NC_000002.11:g.195939901=

NC_000002.11:g.19...

NC_000002.11:g.195939901A>C

NC_000002.11:g.19...

NC_000002.11:g.195939901A>G

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#.

43 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss907194 Oct 05, 2000 (86)
2 SC_JCM ss3603006 Sep 28, 2001 (126)
3 SC_SNP ss15765709 Feb 27, 2004 (120)
4 CSHL-HAPMAP ss19461853 Feb 27, 2004 (120)
5 SSAHASNP ss21712283 Apr 05, 2004 (121)
6 ABI ss41809381 Mar 11, 2006 (126)
7 BCMHGSC_JDW ss91497629 Mar 24, 2008 (129)
8 HUMANGENOME_JCVI ss96461245 Feb 05, 2009 (130)
9 BUSHMAN ss201562006 Jul 04, 2010 (132)
10 BCM-HGSC-SUB ss205940274 Jul 04, 2010 (132)
11 BL ss253788975 May 09, 2011 (134)
12 GMI ss276848244 May 04, 2012 (137)
13 GMI ss284515033 Apr 25, 2013 (138)
14 PJP ss292461642 May 09, 2011 (134)
15 1000GENOMES ss330227107 May 09, 2011 (134)
16 TISHKOFF ss556130699 Apr 25, 2013 (138)
17 SSMP ss649795718 Apr 25, 2013 (138)
18 JMKIDD_LAB ss1069829014 Aug 21, 2014 (142)
19 1000GENOMES ss1301062063 Aug 21, 2014 (142)
20 DDI ss1428867825 Apr 01, 2015 (144)
21 EVA_GENOME_DK ss1579264296 Apr 01, 2015 (144)
22 EVA_UK10K_ALSPAC ss1605483249 Apr 01, 2015 (144)
23 EVA_UK10K_TWINSUK ss1648477282 Apr 01, 2015 (144)
24 HAMMER_LAB ss1798140918 Sep 08, 2015 (146)
25 WEILL_CORNELL_DGM ss1921058380 Feb 12, 2016 (147)
26 GENOMED ss1968990518 Jul 19, 2016 (147)
27 JJLAB ss2021070143 Sep 14, 2016 (149)
28 USC_VALOUEV ss2149135099 Dec 20, 2016 (150)
29 HUMAN_LONGEVITY ss2237918264 Dec 20, 2016 (150)
30 SYSTEMSBIOZJU ss2625038396 Nov 08, 2017 (151)
31 GRF ss2703780527 Nov 08, 2017 (151)
32 GNOMAD ss2784648154 Nov 08, 2017 (151)
33 SWEGEN ss2991121885 Nov 08, 2017 (151)
34 TOPMED ss3334499835 Nov 08, 2017 (151)
35 CSHL ss3344677952 Nov 08, 2017 (151)
36 URBANLAB ss3647242773 Oct 11, 2018 (152)
37 EVA_DECODE ss3705736149 Jul 13, 2019 (153)
38 ACPOP ss3729246516 Jul 13, 2019 (153)
39 EVA ss3757911576 Jul 13, 2019 (153)
40 PACBIO ss3784111821 Jul 13, 2019 (153)
41 PACBIO ss3789656724 Jul 13, 2019 (153)
42 PACBIO ss3794529873 Jul 13, 2019 (153)
43 KHV_HUMAN_GENOMES ss3802271087 Jul 13, 2019 (153)
44 1000Genomes NC_000002.11 - 195939901 Oct 11, 2018 (152)
45 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 195939901 Oct 11, 2018 (152)
46 gnomAD - Genomes NC_000002.11 - 195939901 Jul 13, 2019 (153)
47 Northern Sweden NC_000002.11 - 195939901 Jul 13, 2019 (153)
48 TopMed NC_000002.12 - 195075177 Oct 11, 2018 (152)
49 UK 10K study - Twins NC_000002.11 - 195939901 Oct 11, 2018 (152)
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)
rs2566712 Mar 11, 2006 (126)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2237918264 NC_000002.12:195075176:A:C NC_000002.12:195075176:A:C (self)
ss91497629, ss201562006, ss205940274, ss253788975, ss276848244, ss284515033, ss292461642 NC_000002.10:195648145:A:G NC_000002.12:195075176:A:G (self)
12144796, 6708920, 33215047, 2531381, 6708920, ss330227107, ss556130699, ss649795718, ss1069829014, ss1301062063, ss1428867825, ss1579264296, ss1605483249, ss1648477282, ss1798140918, ss1921058380, ss1968990518, ss2021070143, ss2149135099, ss2625038396, ss2703780527, ss2784648154, ss2991121885, ss3344677952, ss3729246516, ss3757911576, ss3784111821, ss3789656724, ss3794529873 NC_000002.11:195939900:A:G NC_000002.12:195075176:A:G (self)
214242541, ss2237918264, ss3334499835, ss3647242773, ss3705736149, ss3802271087 NC_000002.12:195075176:A:G NC_000002.12:195075176:A:G (self)
ss19461853, ss21712283 NT_005403.14:46149316:A:G NC_000002.12:195075176:A:G (self)
ss907194, ss3603006, ss15765709, ss41809381, ss96461245 NT_005403.17:46149318:A:G NC_000002.12:195075176:A:G (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 rs777720

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.post308+0fe9b3b