Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs61734441

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:6501817 (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
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.002765 (732/264690, TOPMED)
A=0.002640 (413/156416, GnomAD_exome)
A=0.002923 (410/140272, GnomAD) (+ 12 more)
A=0.00317 (156/49248, ALFA)
A=0.00282 (60/21258, ExAC)
A=0.0006 (4/6404, 1000G_30x)
A=0.0008 (4/5008, 1000G)
A=0.0042 (19/4566, GO-ESP)
A=0.0013 (6/4480, Estonian)
A=0.0031 (12/3854, ALSPAC)
A=0.0062 (23/3708, TWINSUK)
A=0.010 (10/998, GoNL)
A=0.002 (1/600, NorthernSweden)
A=0.002 (1/534, MGP)
A=0.03 (1/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GRID2IP : Synonymous 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 65610 G=0.99645 A=0.00355
European Sub 47324 G=0.99582 A=0.00418
African Sub 8398 G=0.9993 A=0.0007
African Others Sub 306 G=1.000 A=0.000
African American Sub 8092 G=0.9993 A=0.0007
Asian Sub 168 G=1.000 A=0.000
East Asian Sub 112 G=1.000 A=0.000
Other Asian Sub 56 G=1.00 A=0.00
Latin American 1 Sub 500 G=0.994 A=0.006
Latin American 2 Sub 628 G=0.997 A=0.003
South Asian Sub 98 G=1.00 A=0.00
Other Sub 8494 G=0.9972 A=0.0028


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 G=0.997235 A=0.002765
gnomAD - Exomes Global Study-wide 156416 G=0.997360 A=0.002640
gnomAD - Exomes European Sub 77262 G=0.99597 A=0.00403
gnomAD - Exomes Asian Sub 33674 G=0.99857 A=0.00143
gnomAD - Exomes American Sub 24676 G=0.99870 A=0.00130
gnomAD - Exomes Ashkenazi Jewish Sub 8490 G=0.9993 A=0.0007
gnomAD - Exomes African Sub 7918 G=0.9992 A=0.0008
gnomAD - Exomes Other Sub 4396 G=0.9977 A=0.0023
gnomAD - Genomes Global Study-wide 140272 G=0.997077 A=0.002923
gnomAD - Genomes European Sub 75952 G=0.99547 A=0.00453
gnomAD - Genomes African Sub 42054 G=0.99924 A=0.00076
gnomAD - Genomes American Sub 13660 G=0.99766 A=0.00234
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3134 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2152 G=0.9991 A=0.0009
Allele Frequency Aggregator Total Global 49248 G=0.99683 A=0.00317
Allele Frequency Aggregator European Sub 37234 G=0.99651 A=0.00349
Allele Frequency Aggregator Other Sub 7060 G=0.9973 A=0.0027
Allele Frequency Aggregator African Sub 3560 G=0.9994 A=0.0006
Allele Frequency Aggregator Latin American 2 Sub 628 G=0.997 A=0.003
Allele Frequency Aggregator Latin American 1 Sub 500 G=0.994 A=0.006
Allele Frequency Aggregator Asian Sub 168 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=0.00
ExAC Global Study-wide 21258 G=0.99718 A=0.00282
ExAC Europe Sub 9974 G=0.9967 A=0.0033
ExAC Asian Sub 8522 G=0.9977 A=0.0023
ExAC African Sub 2126 G=0.9981 A=0.0019
ExAC American Sub 404 G=0.995 A=0.005
ExAC Other Sub 232 G=0.996 A=0.004
1000Genomes_30x Global Study-wide 6404 G=0.9992 A=0.0006, C=0.0002
1000Genomes_30x African Sub 1786 G=0.9994 A=0.0000, C=0.0006
1000Genomes_30x Europe Sub 1266 G=1.0000 A=0.0000, C=0.0000
1000Genomes_30x South Asian Sub 1202 G=0.9975 A=0.0025, C=0.0000
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000, C=0.0000
1000Genomes_30x American Sub 980 G=0.999 A=0.001, C=0.000
1000Genomes Global Study-wide 5008 G=0.9992 A=0.0008
1000Genomes African Sub 1322 G=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=0.997 A=0.003
1000Genomes American Sub 694 G=0.999 A=0.001
GO Exome Sequencing Project Global Study-wide 4566 G=0.9958 A=0.0042
GO Exome Sequencing Project European American Sub 3182 G=0.9943 A=0.0057
GO Exome Sequencing Project African American Sub 1384 G=0.9993 A=0.0007
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9987 A=0.0013
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9969 A=0.0031
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9938 A=0.0062
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.990 A=0.010
Northern Sweden ACPOP Study-wide 600 G=0.998 A=0.002
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.998 A=0.002
The Danish reference pan genome Danish Study-wide 40 G=0.97 A=0.03
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 7 NC_000007.14:g.6501817G>A
GRCh38.p14 chr 7 NC_000007.14:g.6501817G>C
GRCh37.p13 chr 7 NC_000007.13:g.6541448G>A
GRCh37.p13 chr 7 NC_000007.13:g.6541448G>C
Gene: GRID2IP, Grid2 interacting protein (minus strand)
Molecule type Change Amino acid[Codon] SO Term
GRID2IP transcript variant 2 NM_001388403.1:c.2790C>T S [TCC] > S [TCT] Coding Sequence Variant
delphilin isoform 2 NP_001375332.1:p.Ser930= S (Ser) > S (Ser) Synonymous Variant
GRID2IP transcript variant 2 NM_001388403.1:c.2790C>G S [TCC] > S [TCG] Coding Sequence Variant
delphilin isoform 2 NP_001375332.1:p.Ser930= S (Ser) > S (Ser) Synonymous Variant
GRID2IP transcript variant 1 NM_001145118.2:c.3363C>T S [TCC] > S [TCT] Coding Sequence Variant
delphilin isoform 1 NP_001138590.1:p.Ser1121= S (Ser) > S (Ser) Synonymous Variant
GRID2IP transcript variant 1 NM_001145118.2:c.3363C>G S [TCC] > S [TCG] Coding Sequence Variant
delphilin isoform 1 NP_001138590.1:p.Ser1121= S (Ser) > S (Ser) Synonymous Variant
GRID2IP transcript variant 3 NM_001394781.1:c.2814C>T S [TCC] > S [TCT] Coding Sequence Variant
delphilin isoform 3 NP_001381710.1:p.Ser938= S (Ser) > S (Ser) Synonymous Variant
GRID2IP transcript variant 3 NM_001394781.1:c.2814C>G S [TCC] > S [TCG] Coding Sequence Variant
delphilin isoform 3 NP_001381710.1:p.Ser938= S (Ser) > S (Ser) Synonymous Variant
GRID2IP transcript variant X1 XM_047420365.1:c.2793C>T S [TCC] > S [TCT] Coding Sequence Variant
delphilin isoform X1 XP_047276321.1:p.Ser931= S (Ser) > S (Ser) Synonymous Variant
GRID2IP transcript variant X1 XM_047420365.1:c.2793C>G S [TCC] > S [TCG] Coding Sequence Variant
delphilin isoform X1 XP_047276321.1:p.Ser931= S (Ser) > S (Ser) Synonymous 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 G= A C
GRCh38.p14 chr 7 NC_000007.14:g.6501817= NC_000007.14:g.6501817G>A NC_000007.14:g.6501817G>C
GRCh37.p13 chr 7 NC_000007.13:g.6541448= NC_000007.13:g.6541448G>A NC_000007.13:g.6541448G>C
GRID2IP transcript variant 1 NM_001145118.2:c.3363= NM_001145118.2:c.3363C>T NM_001145118.2:c.3363C>G
GRID2IP transcript variant 1 NM_001145118.1:c.3363= NM_001145118.1:c.3363C>T NM_001145118.1:c.3363C>G
GRID2IP transcript variant 3 NM_001394781.1:c.2814= NM_001394781.1:c.2814C>T NM_001394781.1:c.2814C>G
GRID2IP transcript variant X1 XM_047420365.1:c.2793= XM_047420365.1:c.2793C>T XM_047420365.1:c.2793C>G
GRID2IP transcript variant 2 NM_001388403.1:c.2790= NM_001388403.1:c.2790C>T NM_001388403.1:c.2790C>G
delphilin isoform 1 NP_001138590.1:p.Ser1121= NP_001138590.1:p.Ser1121= NP_001138590.1:p.Ser1121=
delphilin isoform 3 NP_001381710.1:p.Ser938= NP_001381710.1:p.Ser938= NP_001381710.1:p.Ser938=
delphilin isoform X1 XP_047276321.1:p.Ser931= XP_047276321.1:p.Ser931= XP_047276321.1:p.Ser931=
delphilin isoform 2 NP_001375332.1:p.Ser930= NP_001375332.1:p.Ser930= NP_001375332.1:p.Ser930=
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#.

32 SubSNP, 15 Frequency submissions
No Submitter Submission ID Date (Build)
1 CORNELL ss86250067 Mar 23, 2008 (129)
2 1000GENOMES ss333881563 May 09, 2011 (134)
3 NHLBI-ESP ss712758586 Apr 25, 2013 (138)
4 EVA-GONL ss983891543 Aug 21, 2014 (142)
5 1000GENOMES ss1323729669 Aug 21, 2014 (142)
6 EVA_GENOME_DK ss1582047143 Apr 01, 2015 (144)
7 EVA_DECODE ss1593457260 Apr 01, 2015 (144)
8 EVA_UK10K_ALSPAC ss1617467828 Apr 01, 2015 (144)
9 EVA_UK10K_TWINSUK ss1660461861 Apr 01, 2015 (144)
10 EVA_EXAC ss1688642447 Apr 01, 2015 (144)
11 EVA_MGP ss1711154139 Apr 01, 2015 (144)
12 HUMAN_LONGEVITY ss2291351408 Dec 20, 2016 (150)
13 GNOMAD ss2736285708 Nov 08, 2017 (151)
14 GNOMAD ss2747775455 Nov 08, 2017 (151)
15 GNOMAD ss2849215776 Nov 08, 2017 (151)
16 SWEGEN ss3000545294 Nov 08, 2017 (151)
17 EGCUT_WGS ss3668467810 Jul 13, 2019 (153)
18 EVA_DECODE ss3719005437 Jul 13, 2019 (153)
19 ACPOP ss3734310841 Jul 13, 2019 (153)
20 EVA ss3824256359 Apr 26, 2020 (154)
21 EVA ss3825714858 Apr 26, 2020 (154)
22 EVA ss3986373098 Apr 26, 2021 (155)
23 TOPMED ss4733926233 Apr 26, 2021 (155)
24 1000G_HIGH_COVERAGE ss5271653361 Oct 13, 2022 (156)
25 EVA ss5371344641 Oct 13, 2022 (156)
26 HUGCELL_USP ss5468959110 Oct 13, 2022 (156)
27 1000G_HIGH_COVERAGE ss5559204087 Oct 13, 2022 (156)
28 SANFORD_IMAGENETICS ss5642237371 Oct 13, 2022 (156)
29 EVA ss5822339312 Oct 13, 2022 (156)
30 EVA ss5848676559 Oct 13, 2022 (156)
31 EVA ss5857509140 Oct 13, 2022 (156)
32 EVA ss5971427821 Oct 13, 2022 (156)
33 1000Genomes NC_000007.13 - 6541448 Oct 12, 2018 (152)
34 1000Genomes_30x NC_000007.14 - 6501817 Oct 13, 2022 (156)
35 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 6541448 Oct 12, 2018 (152)
36 Genetic variation in the Estonian population NC_000007.13 - 6541448 Oct 12, 2018 (152)
37 ExAC NC_000007.13 - 6541448 Oct 12, 2018 (152)
38 The Danish reference pan genome NC_000007.13 - 6541448 Apr 26, 2020 (154)
39 gnomAD - Genomes NC_000007.14 - 6501817 Apr 26, 2021 (155)
40 gnomAD - Exomes NC_000007.13 - 6541448 Jul 13, 2019 (153)
41 GO Exome Sequencing Project NC_000007.13 - 6541448 Oct 12, 2018 (152)
42 Genome of the Netherlands Release 5 NC_000007.13 - 6541448 Apr 26, 2020 (154)
43 Medical Genome Project healthy controls from Spanish population NC_000007.13 - 6541448 Apr 26, 2020 (154)
44 Northern Sweden NC_000007.13 - 6541448 Jul 13, 2019 (153)
45 TopMed NC_000007.14 - 6501817 Apr 26, 2021 (155)
46 UK 10K study - Twins NC_000007.13 - 6541448 Oct 12, 2018 (152)
47 ALFA NC_000007.14 - 6501817 Apr 26, 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
ss1593457260 NC_000007.12:6507972:G:A NC_000007.14:6501816:G:A (self)
35651097, 19874620, 14206058, 8700603, 8212082, 5443850, 714340, 8851097, 269899, 7595706, 19874620, ss333881563, ss712758586, ss983891543, ss1323729669, ss1582047143, ss1617467828, ss1660461861, ss1688642447, ss1711154139, ss2736285708, ss2747775455, ss2849215776, ss3000545294, ss3668467810, ss3734310841, ss3824256359, ss3825714858, ss3986373098, ss5371344641, ss5642237371, ss5822339312, ss5848676559, ss5971427821 NC_000007.13:6541447:G:A NC_000007.14:6501816:G:A (self)
46730022, 251505285, 571303792, 179007656, ss2291351408, ss3719005437, ss4733926233, ss5271653361, ss5468959110, ss5559204087, ss5857509140 NC_000007.14:6501816:G:A NC_000007.14:6501816:G:A (self)
ss86250067 NT_007819.17:6531447:G:A NC_000007.14:6501816:G:A (self)
46730022, ss5559204087 NC_000007.14:6501816:G:C NC_000007.14:6501816:G:C
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 rs61734441

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