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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.

rs115813755

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr11:120485248 (GRCh38.p13) 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
G=0.008618 (1208/140170, GnomAD)
G=0.00119 (27/22676, ALFA)
G=0.0084 (42/5008, 1000G) (+ 3 more)
G=0.005 (1/216, Qatari)
A=0.5 (1/2, SGDP_PRJ)
G=0.5 (1/2, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ARHGEF12 : 3 Prime UTR 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.p13 chr 11 NC_000011.10:g.120485248A>C
GRCh38.p13 chr 11 NC_000011.10:g.120485248A>G
GRCh37.p13 chr 11 NC_000011.9:g.120355957A>C
GRCh37.p13 chr 11 NC_000011.9:g.120355957A>G
ARHGEF12 RefSeqGene NG_027960.1:g.153340A>C
ARHGEF12 RefSeqGene NG_027960.1:g.153340A>G
Gene: ARHGEF12, Rho guanine nucleotide exchange factor 12 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ARHGEF12 transcript variant 1 NM_015313.3:c.*171= N/A 3 Prime UTR Variant
ARHGEF12 transcript variant 3 NM_001301084.2:c.*171= N/A 3 Prime UTR Variant
ARHGEF12 transcript variant 2 NM_001198665.2:c.*171= N/A 3 Prime UTR Variant
ARHGEF12 transcript variant X1 XM_011542720.2:c.*171= N/A 3 Prime UTR Variant
ARHGEF12 transcript variant X2 XM_006718805.3:c.*171= N/A 3 Prime UTR Variant
ARHGEF12 transcript variant X3 XM_017017420.1:c.*171= N/A 3 Prime UTR Variant
ARHGEF12 transcript variant X4 XM_017017421.1:c.*171= N/A 3 Prime UTR Variant
ARHGEF12 transcript variant X5 XM_017017422.2:c.*171= N/A 3 Prime UTR 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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 22676 A=0.99881 C=0.00000, G=0.00119
European Sub 17516 A=1.00000 C=0.00000, G=0.00000
African Sub 2954 A=0.9919 C=0.0000, G=0.0081
African Others Sub 112 A=1.000 C=0.000, G=0.000
African American Sub 2842 A=0.9916 C=0.0000, G=0.0084
Asian Sub 126 A=1.000 C=0.000, G=0.000
East Asian Sub 98 A=1.00 C=0.00, G=0.00
Other Asian Sub 28 A=1.00 C=0.00, G=0.00
Latin American 1 Sub 160 A=1.000 C=0.000, G=0.000
Latin American 2 Sub 644 A=1.000 C=0.000, G=0.000
South Asian Sub 106 A=1.000 C=0.000, G=0.000
Other Sub 1170 A=0.9974 C=0.0000, G=0.0026


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
gnomAD - Genomes Global Study-wide 140170 A=0.991382 G=0.008618
gnomAD - Genomes European Sub 75914 A=0.99999 G=0.00001
gnomAD - Genomes African Sub 41992 A=0.97211 G=0.02789
gnomAD - Genomes American Sub 13658 A=0.99832 G=0.00168
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3130 A=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2152 A=0.9940 G=0.0060
1000Genomes Global Study-wide 5008 A=0.9916 G=0.0084
1000Genomes African Sub 1322 A=0.9697 G=0.0303
1000Genomes East Asian Sub 1008 A=1.0000 G=0.0000
1000Genomes Europe Sub 1006 A=1.0000 G=0.0000
1000Genomes South Asian Sub 978 A=1.000 G=0.000
1000Genomes American Sub 694 A=0.997 G=0.003
Qatari Global Study-wide 216 A=0.995 G=0.005
SGDP_PRJ Global Study-wide 2 A=0.5 G=0.5
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
GRCh38.p13 chr 11 NC_000011.10:g.120485248= NC_000011.10:g.120485248A>C NC_000011.10:g.120485248A>G
GRCh37.p13 chr 11 NC_000011.9:g.120355957= NC_000011.9:g.120355957A>C NC_000011.9:g.120355957A>G
ARHGEF12 RefSeqGene NG_027960.1:g.153340= NG_027960.1:g.153340A>C NG_027960.1:g.153340A>G
ARHGEF12 transcript variant 1 NM_015313.3:c.*171= NM_015313.3:c.*171A>C NM_015313.3:c.*171A>G
ARHGEF12 transcript variant 1 NM_015313.2:c.*171= NM_015313.2:c.*171A>C NM_015313.2:c.*171A>G
ARHGEF12 transcript variant 2 NM_001198665.2:c.*171= NM_001198665.2:c.*171A>C NM_001198665.2:c.*171A>G
ARHGEF12 transcript variant 2 NM_001198665.1:c.*171= NM_001198665.1:c.*171A>C NM_001198665.1:c.*171A>G
ARHGEF12 transcript variant 3 NM_001301084.2:c.*171= NM_001301084.2:c.*171A>C NM_001301084.2:c.*171A>G
ARHGEF12 transcript variant 3 NM_001301084.1:c.*171= NM_001301084.1:c.*171A>C NM_001301084.1:c.*171A>G
ARHGEF12 transcript variant X2 XM_006718805.3:c.*171= XM_006718805.3:c.*171A>C XM_006718805.3:c.*171A>G
ARHGEF12 transcript variant X1 XM_011542720.2:c.*171= XM_011542720.2:c.*171A>C XM_011542720.2:c.*171A>G
ARHGEF12 transcript variant X5 XM_017017422.2:c.*171= XM_017017422.2:c.*171A>C XM_017017422.2:c.*171A>G
ARHGEF12 transcript variant X3 XM_017017420.1:c.*171= XM_017017420.1:c.*171A>C XM_017017420.1:c.*171A>G
ARHGEF12 transcript variant X4 XM_017017421.1:c.*171= XM_017017421.1:c.*171A>C XM_017017421.1:c.*171A>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#.

22 SubSNP, 7 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss225496914 Jul 14, 2010 (132)
2 ILLUMINA ss480109826 May 04, 2012 (137)
3 ILLUMINA ss482741054 May 04, 2012 (137)
4 ILLUMINA ss533551337 Sep 08, 2015 (146)
5 ILLUMINA ss779175263 Sep 08, 2015 (146)
6 ILLUMINA ss781149260 Sep 08, 2015 (146)
7 ILLUMINA ss834640503 Sep 08, 2015 (146)
8 1000GENOMES ss1343229691 Aug 21, 2014 (142)
9 WEILL_CORNELL_DGM ss1932393672 Feb 12, 2016 (147)
10 HUMAN_LONGEVITY ss2186252891 Dec 20, 2016 (150)
11 TOPMED ss2349846256 Dec 20, 2016 (150)
12 ILLUMINA ss2632896491 Nov 08, 2017 (151)
13 GNOMAD ss2905198444 Nov 08, 2017 (151)
14 TOPMED ss3158092799 Nov 08, 2017 (151)
15 ILLUMINA ss3626766169 Oct 12, 2018 (152)
16 ILLUMINA ss3630909805 Oct 12, 2018 (152)
17 KHV_HUMAN_GENOMES ss3815221701 Jul 13, 2019 (153)
18 SGDP_PRJ ss3877273382 Apr 26, 2020 (154)
19 FSA-LAB ss3984015596 Apr 26, 2021 (155)
20 EVA ss3986549200 Apr 26, 2021 (155)
21 TOPMED ss4902248858 Apr 26, 2021 (155)
22 TOPMED ss4902248859 Apr 26, 2021 (155)
23 1000Genomes NC_000011.9 - 120355957 Oct 12, 2018 (152)
24 gnomAD - Genomes NC_000011.10 - 120485248 Apr 26, 2021 (155)
25 Qatari NC_000011.9 - 120355957 Apr 26, 2020 (154)
26 SGDP_PRJ NC_000011.9 - 120355957 Apr 26, 2020 (154)
27 TopMed

Submission ignored due to conflicting rows:
Row 117794514 (NC_000011.10:120485247:A:C 2/264690)
Row 117794515 (NC_000011.10:120485247:A:G 2437/264690)

- Apr 26, 2021 (155)
28 TopMed

Submission ignored due to conflicting rows:
Row 117794514 (NC_000011.10:120485247:A:C 2/264690)
Row 117794515 (NC_000011.10:120485247:A:G 2437/264690)

- Apr 26, 2021 (155)
29 ALFA NC_000011.10 - 120485248 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
7089682902, ss4902248858 NC_000011.10:120485247:A:C NC_000011.10:120485247:A:C
ss482741054 NC_000011.8:119861166:A:G NC_000011.10:120485247:A:G (self)
55821259, 14435602, 29290362, ss225496914, ss480109826, ss533551337, ss779175263, ss781149260, ss834640503, ss1343229691, ss1932393672, ss2349846256, ss2632896491, ss2905198444, ss3626766169, ss3630909805, ss3877273382, ss3984015596, ss3986549200 NC_000011.9:120355956:A:G NC_000011.10:120485247:A:G (self)
393857401, 73833475, 7089682902, ss2186252891, ss3158092799, ss3815221701, ss4902248859 NC_000011.10:120485247:A:G NC_000011.10:120485247: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 rs115813755

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.post596+ae089ad