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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.


Current Build 155

Released April 9, 2021

Homo sapiens
chr1:17622991 (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.

Variation Type
SNV Single Nucleotide Variation
A=0.000042 (11/264690, TOPMED)
A=0.000012 (3/246462, GnomAD_exome)
A=0.000043 (6/140254, GnomAD) (+ 4 more)
A=0.000017 (2/114496, ExAC)
A=0.00006 (1/16760, 8.3KJPN)
A=0.00007 (1/14050, ALFA)
A=0.00008 (1/13004, GO-ESP)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ARHGEF10L : 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.p13 chr 1 NC_000001.11:g.17622991G>A
GRCh37.p13 chr 1 NC_000001.10:g.17949486G>A
ARHGEF10L RefSeqGene NG_050860.1:g.107795G>A
Gene: ARHGEF10L, Rho guanine nucleotide exchange factor 10 like (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ARHGEF10L transcript variant 2 NM_001011722.2:c.904-5G>A N/A Intron Variant
ARHGEF10L transcript variant 3 NM_001319837.1:c.904-5G>A N/A Intron Variant
ARHGEF10L transcript variant 4 NM_001319838.1:c.355-5G>A N/A Intron Variant
ARHGEF10L transcript variant 5 NM_001328124.1:c.355-5G>A N/A Intron Variant
ARHGEF10L transcript variant 1 NM_018125.4:c.1021-5G>A N/A Intron Variant
ARHGEF10L transcript variant 6 NR_137287.2:n. N/A Intron Variant
ARHGEF10L transcript variant 7 NR_137288.2:n. N/A Intron Variant
ARHGEF10L transcript variant X2 XM_005245923.2:c.916-5G>A N/A Intron Variant
ARHGEF10L transcript variant X9 XM_005245925.2:c.904-5G>A N/A Intron Variant
ARHGEF10L transcript variant X15 XM_005245929.3:c.355-5G>A N/A Intron Variant
ARHGEF10L transcript variant X1 XM_006710728.1:c.916-5G>A N/A Intron Variant
ARHGEF10L transcript variant X7 XM_006710729.1:c.913-5G>A N/A Intron Variant
ARHGEF10L transcript variant X6 XM_006710731.1:c.913-5G>A N/A Intron Variant
ARHGEF10L transcript variant X8 XM_011541691.2:c.907-5G>A N/A Intron Variant
ARHGEF10L transcript variant X10 XM_011541692.2:c.916-5G>A N/A Intron Variant
ARHGEF10L transcript variant X11 XM_011541693.2:c.907-5G>A N/A Intron Variant
ARHGEF10L transcript variant X12 XM_017001617.1:c.904-5G>A N/A Intron Variant
ARHGEF10L transcript variant X16 XM_017001618.1:c.310-5G>A N/A Intron Variant
ARHGEF10L transcript variant X17 XM_017001619.1:c.916-5G>A N/A Intron Variant
ARHGEF10L transcript variant X18 XM_017001620.1:c.916-5G>A N/A Intron Variant
ARHGEF10L transcript variant X26 XM_017001621.1:c.1021-5G>A N/A Intron Variant
ARHGEF10L transcript variant X27 XM_017001622.1:c.1021-5G>A N/A Intron Variant
ARHGEF10L transcript variant X3 XM_024448059.1:c.916-5G>A N/A Intron Variant
ARHGEF10L transcript variant X4 XM_024448061.1:c.916-5G>A N/A Intron Variant
ARHGEF10L transcript variant X5 XM_024448062.1:c.916-5G>A N/A Intron Variant
ARHGEF10L transcript variant X14 XR_001737276.1:n. N/A Intron Variant
ARHGEF10L transcript variant X19 XR_001737277.1:n. N/A Intron Variant
ARHGEF10L transcript variant X23 XR_002956988.1:n. N/A Intron Variant
ARHGEF10L transcript variant X25 XR_002956989.1:n. N/A Intron Variant
ARHGEF10L transcript variant X13 XR_946686.3:n. N/A Intron Variant
ARHGEF10L transcript variant X20 XR_946688.2:n. N/A Intron Variant
ARHGEF10L transcript variant X21 XR_946689.2:n. N/A Intron Variant
ARHGEF10L transcript variant X22 XR_946690.2:n. N/A Intron Variant
ARHGEF10L transcript variant X24 XR_946691.2:n. N/A Intron 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

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 14050 G=0.99993 A=0.00007
European Sub 9690 G=0.9999 A=0.0001
African Sub 2898 G=1.0000 A=0.0000
African Others Sub 114 G=1.000 A=0.000
African American Sub 2784 G=1.0000 A=0.0000
Asian Sub 112 G=1.000 A=0.000
East Asian Sub 86 G=1.00 A=0.00
Other Asian Sub 26 G=1.00 A=0.00
Latin American 1 Sub 146 G=1.000 A=0.000
Latin American 2 Sub 610 G=1.000 A=0.000
South Asian Sub 98 G=1.00 A=0.00
Other Sub 496 G=1.000 A=0.000


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 264690 G=0.999958 A=0.000042
gnomAD - Exomes Global Study-wide 246462 G=0.999988 A=0.000012
gnomAD - Exomes European Sub 131540 G=0.999992 A=0.000008
gnomAD - Exomes Asian Sub 48704 G=1.00000 A=0.00000
gnomAD - Exomes American Sub 34304 G=0.99997 A=0.00003
gnomAD - Exomes African Sub 16070 G=0.99994 A=0.00006
gnomAD - Exomes Ashkenazi Jewish Sub 9838 G=1.0000 A=0.0000
gnomAD - Exomes Other Sub 6006 G=1.0000 A=0.0000
gnomAD - Genomes Global Study-wide 140254 G=0.999957 A=0.000043
gnomAD - Genomes European Sub 75928 G=0.99996 A=0.00004
gnomAD - Genomes African Sub 42052 G=0.99993 A=0.00007
gnomAD - Genomes American Sub 13666 G=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3134 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2152 G=1.0000 A=0.0000
ExAC Global Study-wide 114496 G=0.999983 A=0.000017
ExAC Europe Sub 69480 G=0.99999 A=0.00001
ExAC Asian Sub 23336 G=1.00000 A=0.00000
ExAC American Sub 11318 G=1.00000 A=0.00000
ExAC African Sub 9532 G=0.9999 A=0.0001
ExAC Other Sub 830 G=1.000 A=0.000
8.3KJPN JAPANESE Study-wide 16760 G=0.99994 A=0.00006
GO Exome Sequencing Project Global Study-wide 13004 G=0.99992 A=0.00008
GO Exome Sequencing Project European American Sub 8600 G=1.0000 A=0.0000
GO Exome Sequencing Project African American Sub 4404 G=0.9998 A=0.0002

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
GRCh38.p13 chr 1 NC_000001.11:g.17622991= NC_000001.11:g.17622991G>A
GRCh37.p13 chr 1 NC_000001.10:g.17949486= NC_000001.10:g.17949486G>A
ARHGEF10L RefSeqGene NG_050860.1:g.107795= NG_050860.1:g.107795G>A
ARHGEF10L transcript variant 2 NM_001011722.2:c.904-5= NM_001011722.2:c.904-5G>A
ARHGEF10L transcript variant 3 NM_001319837.1:c.904-5= NM_001319837.1:c.904-5G>A
ARHGEF10L transcript variant 4 NM_001319838.1:c.355-5= NM_001319838.1:c.355-5G>A
ARHGEF10L transcript variant 5 NM_001328124.1:c.355-5= NM_001328124.1:c.355-5G>A
ARHGEF10L transcript variant 1 NM_018125.3:c.1021-5= NM_018125.3:c.1021-5G>A
ARHGEF10L transcript variant 1 NM_018125.4:c.1021-5= NM_018125.4:c.1021-5G>A
ARHGEF10L transcript variant X1 XM_005245921.1:c.1021-5= XM_005245921.1:c.1021-5G>A
ARHGEF10L transcript variant X2 XM_005245922.1:c.1021-5= XM_005245922.1:c.1021-5G>A
ARHGEF10L transcript variant X3 XM_005245923.1:c.916-5= XM_005245923.1:c.916-5G>A
ARHGEF10L transcript variant X2 XM_005245923.2:c.916-5= XM_005245923.2:c.916-5G>A
ARHGEF10L transcript variant X4 XM_005245924.1:c.907-5= XM_005245924.1:c.907-5G>A
ARHGEF10L transcript variant X5 XM_005245925.1:c.904-5= XM_005245925.1:c.904-5G>A
ARHGEF10L transcript variant X9 XM_005245925.2:c.904-5= XM_005245925.2:c.904-5G>A
ARHGEF10L transcript variant X6 XM_005245926.1:c.904-5= XM_005245926.1:c.904-5G>A
ARHGEF10L transcript variant X7 XM_005245927.1:c.355-5= XM_005245927.1:c.355-5G>A
ARHGEF10L transcript variant X8 XM_005245928.1:c.346-5= XM_005245928.1:c.346-5G>A
ARHGEF10L transcript variant X9 XM_005245929.1:c.355-5= XM_005245929.1:c.355-5G>A
ARHGEF10L transcript variant X15 XM_005245929.3:c.355-5= XM_005245929.3:c.355-5G>A
ARHGEF10L transcript variant X10 XM_005245930.1:c.355-5= XM_005245930.1:c.355-5G>A
ARHGEF10L transcript variant X1 XM_006710728.1:c.916-5= XM_006710728.1:c.916-5G>A
ARHGEF10L transcript variant X7 XM_006710729.1:c.913-5= XM_006710729.1:c.913-5G>A
ARHGEF10L transcript variant X6 XM_006710731.1:c.913-5= XM_006710731.1:c.913-5G>A
ARHGEF10L transcript variant X8 XM_011541691.2:c.907-5= XM_011541691.2:c.907-5G>A
ARHGEF10L transcript variant X10 XM_011541692.2:c.916-5= XM_011541692.2:c.916-5G>A
ARHGEF10L transcript variant X11 XM_011541693.2:c.907-5= XM_011541693.2:c.907-5G>A
ARHGEF10L transcript variant X12 XM_017001617.1:c.904-5= XM_017001617.1:c.904-5G>A
ARHGEF10L transcript variant X16 XM_017001618.1:c.310-5= XM_017001618.1:c.310-5G>A
ARHGEF10L transcript variant X17 XM_017001619.1:c.916-5= XM_017001619.1:c.916-5G>A
ARHGEF10L transcript variant X18 XM_017001620.1:c.916-5= XM_017001620.1:c.916-5G>A
ARHGEF10L transcript variant X26 XM_017001621.1:c.1021-5= XM_017001621.1:c.1021-5G>A
ARHGEF10L transcript variant X27 XM_017001622.1:c.1021-5= XM_017001622.1:c.1021-5G>A
ARHGEF10L transcript variant X3 XM_024448059.1:c.916-5= XM_024448059.1:c.916-5G>A
ARHGEF10L transcript variant X4 XM_024448061.1:c.916-5= XM_024448061.1:c.916-5G>A
ARHGEF10L transcript variant X5 XM_024448062.1:c.916-5= XM_024448062.1:c.916-5G>A

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#.

9 SubSNP, 7 Frequency submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss712278473 Apr 25, 2013 (138)
2 EVA_EXAC ss1685350806 Apr 01, 2015 (144)
3 TOPMED ss2322560223 Dec 20, 2016 (150)
4 GNOMAD ss2731192021 Nov 08, 2017 (151)
5 TOPMED ss3069849079 Nov 08, 2017 (151)
6 EVA ss3823569046 Apr 25, 2020 (154)
7 GNOMAD ss3989124575 Apr 27, 2021 (155)
8 TOPMED ss4440707187 Apr 27, 2021 (155)
9 TOMMO_GENOMICS ss5142731905 Apr 27, 2021 (155)
10 ExAC NC_000001.10 - 17949486 Oct 11, 2018 (152)
11 gnomAD - Genomes NC_000001.11 - 17622991 Apr 27, 2021 (155)
12 gnomAD - Exomes NC_000001.10 - 17949486 Jul 12, 2019 (153)
13 GO Exome Sequencing Project NC_000001.10 - 17949486 Oct 11, 2018 (152)
14 8.3KJPN NC_000001.10 - 17949486 Apr 27, 2021 (155)
15 TopMed NC_000001.11 - 17622991 Apr 27, 2021 (155)
16 ALFA NC_000001.11 - 17622991 Apr 27, 2021 (155)

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
4533377, 204583, 27764, 701212, ss712278473, ss1685350806, ss2322560223, ss2731192021, ss3823569046, ss5142731905 NC_000001.10:17949485:G:A NC_000001.11:17622990:G:A (self)
3842518, 2707881, 4313522, 3149325672, ss3069849079, ss3989124575, ss4440707187 NC_000001.11:17622990:G:A NC_000001.11:17622990:G:A (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 rs367933541


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