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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.

rs34725104

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:17634850 (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
C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.124988 (33083/264690, TOPMED)
T=0.151575 (37697/248702, GnomAD_exome)
T=0.161874 (17779/109832, ExAC) (+ 18 more)
T=0.07318 (5726/78250, PAGE_STUDY)
T=0.15603 (8688/55682, ALFA)
T=0.04959 (831/16758, 8.3KJPN)
T=0.13994 (1820/13006, GO-ESP)
T=0.0813 (407/5008, 1000G)
T=0.2665 (1194/4480, Estonian)
T=0.1834 (707/3854, ALSPAC)
T=0.1737 (644/3708, TWINSUK)
T=0.0731 (214/2926, KOREAN)
T=0.175 (175/998, GoNL)
T=0.046 (28/605, Vietnamese)
T=0.242 (145/600, NorthernSweden)
T=0.124 (66/534, MGP)
T=0.184 (53/288, FINRISK)
T=0.139 (30/216, Qatari)
C=0.450 (54/120, SGDP_PRJ)
T=0.25 (10/40, GENOME_DK)
C=0.45 (9/20, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ARHGEF10L : Missense 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 1 NC_000001.11:g.17634850C>G
GRCh38.p13 chr 1 NC_000001.11:g.17634850C>T
GRCh37.p13 chr 1 NC_000001.10:g.17961345C>G
GRCh37.p13 chr 1 NC_000001.10:g.17961345C>T
ARHGEF10L RefSeqGene NG_050860.1:g.119654C>G
ARHGEF10L RefSeqGene NG_050860.1:g.119654C>T
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.1644C>G I [ATC] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 2 NP_001011722.2:p.Ile548Met I (Ile) > M (Met) Missense Variant
ARHGEF10L transcript variant 2 NM_001011722.2:c.1644C>T I [ATC] > I [ATT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 2 NP_001011722.2:p.Ile548= I (Ile) > I (Ile) Synonymous Variant
ARHGEF10L transcript variant 3 NM_001319837.1:c.1629C>G I [ATC] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 3 NP_001306766.1:p.Ile543Met I (Ile) > M (Met) Missense Variant
ARHGEF10L transcript variant 3 NM_001319837.1:c.1629C>T I [ATC] > I [ATT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 3 NP_001306766.1:p.Ile543= I (Ile) > I (Ile) Synonymous Variant
ARHGEF10L transcript variant 4 NM_001319838.1:c.870C>G I [ATC] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 4 NP_001306767.1:p.Ile290Met I (Ile) > M (Met) Missense Variant
ARHGEF10L transcript variant 4 NM_001319838.1:c.870C>T I [ATC] > I [ATT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 4 NP_001306767.1:p.Ile290= I (Ile) > I (Ile) Synonymous Variant
ARHGEF10L transcript variant 5 NM_001328124.1:c.1095C>G I [ATC] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 5 NP_001315053.1:p.Ile365Met I (Ile) > M (Met) Missense Variant
ARHGEF10L transcript variant 5 NM_001328124.1:c.1095C>T I [ATC] > I [ATT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 5 NP_001315053.1:p.Ile365= I (Ile) > I (Ile) Synonymous Variant
ARHGEF10L transcript variant 1 NM_018125.4:c.1761C>G I [ATC] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 1 NP_060595.3:p.Ile587Met I (Ile) > M (Met) Missense Variant
ARHGEF10L transcript variant 1 NM_018125.4:c.1761C>T I [ATC] > I [ATT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 1 NP_060595.3:p.Ile587= I (Ile) > I (Ile) Synonymous Variant
ARHGEF10L transcript variant 6 NR_137287.2:n.2060C>G N/A Non Coding Transcript Variant
ARHGEF10L transcript variant 6 NR_137287.2:n.2060C>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant 7 NR_137288.2:n.1940C>G N/A Non Coding Transcript Variant
ARHGEF10L transcript variant 7 NR_137288.2:n.1940C>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X2 XM_005245923.2:c.1656C>G I [ATC] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_005245980.2:p.Ile552Met I (Ile) > M (Met) Missense Variant
ARHGEF10L transcript variant X2 XM_005245923.2:c.1656C>T I [ATC] > I [ATT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_005245980.2:p.Ile552= I (Ile) > I (Ile) Synonymous Variant
ARHGEF10L transcript variant X1 XM_006710728.1:c.1656C>G I [ATC] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_006710791.1:p.Ile552Met I (Ile) > M (Met) Missense Variant
ARHGEF10L transcript variant X1 XM_006710728.1:c.1656C>T I [ATC] > I [ATT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_006710791.1:p.Ile552= I (Ile) > I (Ile) Synonymous Variant
ARHGEF10L transcript variant X7 XM_006710729.1:c.1653C>G I [ATC] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710792.1:p.Ile551Met I (Ile) > M (Met) Missense Variant
ARHGEF10L transcript variant X7 XM_006710729.1:c.1653C>T I [ATC] > I [ATT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710792.1:p.Ile551= I (Ile) > I (Ile) Synonymous Variant
ARHGEF10L transcript variant X6 XM_006710731.1:c.1653C>G I [ATC] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710794.1:p.Ile551Met I (Ile) > M (Met) Missense Variant
ARHGEF10L transcript variant X6 XM_006710731.1:c.1653C>T I [ATC] > I [ATT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710794.1:p.Ile551= I (Ile) > I (Ile) Synonymous Variant
ARHGEF10L transcript variant X9 XM_005245925.2:c.1644C>G I [ATC] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X4 XP_005245982.2:p.Ile548Met I (Ile) > M (Met) Missense Variant
ARHGEF10L transcript variant X9 XM_005245925.2:c.1644C>T I [ATC] > I [ATT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X4 XP_005245982.2:p.Ile548= I (Ile) > I (Ile) Synonymous Variant
ARHGEF10L transcript variant X8 XM_011541691.2:c.1647C>G I [ATC] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X3 XP_011539993.1:p.Ile549Met I (Ile) > M (Met) Missense Variant
ARHGEF10L transcript variant X8 XM_011541691.2:c.1647C>T I [ATC] > I [ATT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X3 XP_011539993.1:p.Ile549= I (Ile) > I (Ile) Synonymous Variant
ARHGEF10L transcript variant X10 XM_011541692.2:c.1641C>G I [ATC] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X5 XP_011539994.1:p.Ile547Met I (Ile) > M (Met) Missense Variant
ARHGEF10L transcript variant X10 XM_011541692.2:c.1641C>T I [ATC] > I [ATT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X5 XP_011539994.1:p.Ile547= I (Ile) > I (Ile) Synonymous Variant
ARHGEF10L transcript variant X11 XM_011541693.2:c.1632C>G I [ATC] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X6 XP_011539995.1:p.Ile544Met I (Ile) > M (Met) Missense Variant
ARHGEF10L transcript variant X11 XM_011541693.2:c.1632C>T I [ATC] > I [ATT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X6 XP_011539995.1:p.Ile544= I (Ile) > I (Ile) Synonymous Variant
ARHGEF10L transcript variant X12 XM_017001617.1:c.1629C>G I [ATC] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X7 XP_016857106.1:p.Ile543Met I (Ile) > M (Met) Missense Variant
ARHGEF10L transcript variant X12 XM_017001617.1:c.1629C>T I [ATC] > I [ATT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X7 XP_016857106.1:p.Ile543= I (Ile) > I (Ile) Synonymous Variant
ARHGEF10L transcript variant X16 XM_017001618.1:c.1050C>G I [ATC] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X9 XP_016857107.1:p.Ile350Met I (Ile) > M (Met) Missense Variant
ARHGEF10L transcript variant X16 XM_017001618.1:c.1050C>T I [ATC] > I [ATT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X9 XP_016857107.1:p.Ile350= I (Ile) > I (Ile) Synonymous Variant
ARHGEF10L transcript variant X17 XM_017001619.1:c.1656C>G I [ATC] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X10 XP_016857108.1:p.Ile552Met I (Ile) > M (Met) Missense Variant
ARHGEF10L transcript variant X17 XM_017001619.1:c.1656C>T I [ATC] > I [ATT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X10 XP_016857108.1:p.Ile552= I (Ile) > I (Ile) Synonymous Variant
ARHGEF10L transcript variant X18 XM_017001620.1:c.1641C>G I [ATC] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X11 XP_016857109.1:p.Ile547Met I (Ile) > M (Met) Missense Variant
ARHGEF10L transcript variant X18 XM_017001620.1:c.1641C>T I [ATC] > I [ATT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X11 XP_016857109.1:p.Ile547= I (Ile) > I (Ile) Synonymous Variant
ARHGEF10L transcript variant X26 XM_017001621.1:c.1761C>G I [ATC] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X12 XP_016857110.1:p.Ile587Met I (Ile) > M (Met) Missense Variant
ARHGEF10L transcript variant X26 XM_017001621.1:c.1761C>T I [ATC] > I [ATT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X12 XP_016857110.1:p.Ile587= I (Ile) > I (Ile) Synonymous Variant
ARHGEF10L transcript variant X27 XM_017001622.1:c.1746C>G I [ATC] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X13 XP_016857111.1:p.Ile582Met I (Ile) > M (Met) Missense Variant
ARHGEF10L transcript variant X27 XM_017001622.1:c.1746C>T I [ATC] > I [ATT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X13 XP_016857111.1:p.Ile582= I (Ile) > I (Ile) Synonymous Variant
ARHGEF10L transcript variant X3 XM_024448059.1:c.1656C>G I [ATC] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303827.1:p.Ile552Met I (Ile) > M (Met) Missense Variant
ARHGEF10L transcript variant X3 XM_024448059.1:c.1656C>T I [ATC] > I [ATT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303827.1:p.Ile552= I (Ile) > I (Ile) Synonymous Variant
ARHGEF10L transcript variant X4 XM_024448061.1:c.1656C>G I [ATC] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303829.1:p.Ile552Met I (Ile) > M (Met) Missense Variant
ARHGEF10L transcript variant X4 XM_024448061.1:c.1656C>T I [ATC] > I [ATT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303829.1:p.Ile552= I (Ile) > I (Ile) Synonymous Variant
ARHGEF10L transcript variant X5 XM_024448062.1:c.1656C>G I [ATC] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303830.1:p.Ile552Met I (Ile) > M (Met) Missense Variant
ARHGEF10L transcript variant X5 XM_024448062.1:c.1656C>T I [ATC] > I [ATT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303830.1:p.Ile552= I (Ile) > I (Ile) Synonymous Variant
ARHGEF10L transcript variant X15 XM_005245929.3:c.1080C>G I [ATC] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X8 XP_005245986.2:p.Ile360Met I (Ile) > M (Met) Missense Variant
ARHGEF10L transcript variant X15 XM_005245929.3:c.1080C>T I [ATC] > I [ATT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X8 XP_005245986.2:p.Ile360= I (Ile) > I (Ile) Synonymous Variant
ARHGEF10L transcript variant X14 XR_001737276.1:n.1786C>G N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X14 XR_001737276.1:n.1786C>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X19 XR_001737277.1:n.1785C>G N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X19 XR_001737277.1:n.1785C>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X20 XR_946688.2:n.1785C>G N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X20 XR_946688.2:n.1785C>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X21 XR_946689.2:n.1776C>G N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X21 XR_946689.2:n.1776C>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X22 XR_946690.2:n.1786C>G N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X22 XR_946690.2:n.1786C>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X24 XR_946691.2:n.1785C>G N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X24 XR_946691.2:n.1785C>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X13 XR_946686.3:n.1785C>G N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X13 XR_946686.3:n.1785C>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X23 XR_002956988.1:n.1785C>G N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X23 XR_002956988.1:n.1785C>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X25 XR_002956989.1:n.1770C>G N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X25 XR_002956989.1:n.1770C>T N/A Non Coding 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

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 55682 C=0.84397 G=0.00000, T=0.15603
European Sub 40578 C=0.82567 G=0.00000, T=0.17433
African Sub 6108 C=0.9674 G=0.0000, T=0.0326
African Others Sub 210 C=0.990 G=0.000, T=0.010
African American Sub 5898 C=0.9666 G=0.0000, T=0.0334
Asian Sub 152 C=0.987 G=0.000, T=0.013
East Asian Sub 104 C=0.990 G=0.000, T=0.010
Other Asian Sub 48 C=0.98 G=0.00, T=0.02
Latin American 1 Sub 454 C=0.932 G=0.000, T=0.068
Latin American 2 Sub 520 C=0.992 G=0.000, T=0.008
South Asian Sub 76 C=0.99 G=0.00, T=0.01
Other Sub 7794 C=0.8233 G=0.0000, T=0.1767


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").

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Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 C=0.875012 T=0.124988
gnomAD - Exomes Global Study-wide 248702 C=0.848425 T=0.151575
gnomAD - Exomes European Sub 133536 C=0.802113 T=0.197887
gnomAD - Exomes Asian Sub 48726 C=0.91573 T=0.08427
gnomAD - Exomes American Sub 34356 C=0.89938 T=0.10062
gnomAD - Exomes African Sub 16056 C=0.96929 T=0.03071
gnomAD - Exomes Ashkenazi Jewish Sub 9978 C=0.7808 T=0.2192
gnomAD - Exomes Other Sub 6050 C=0.8299 T=0.1701
ExAC Global Study-wide 109832 C=0.838126 T=0.161874
ExAC Europe Sub 67000 C=0.78852 T=0.21148
ExAC Asian Sub 22596 C=0.90981 T=0.09019
ExAC American Sub 10444 C=0.89659 T=0.10341
ExAC African Sub 8988 C=0.9630 T=0.0370
ExAC Other Sub 804 C=0.802 T=0.198
The PAGE Study Global Study-wide 78250 C=0.92682 T=0.07318
The PAGE Study AfricanAmerican Sub 32236 C=0.96194 T=0.03806
The PAGE Study Mexican Sub 10774 C=0.89243 T=0.10757
The PAGE Study Asian Sub 8288 C=0.9414 T=0.0586
The PAGE Study PuertoRican Sub 7886 C=0.8871 T=0.1129
The PAGE Study NativeHawaiian Sub 4516 C=0.9059 T=0.0941
The PAGE Study Cuban Sub 4210 C=0.8675 T=0.1325
The PAGE Study Dominican Sub 3814 C=0.8983 T=0.1017
The PAGE Study CentralAmerican Sub 2448 C=0.9195 T=0.0805
The PAGE Study SouthAmerican Sub 1974 C=0.9113 T=0.0887
The PAGE Study NativeAmerican Sub 1256 C=0.8702 T=0.1298
The PAGE Study SouthAsian Sub 848 C=0.932 T=0.068
8.3KJPN JAPANESE Study-wide 16758 C=0.95041 T=0.04959
GO Exome Sequencing Project Global Study-wide 13006 C=0.86006 T=0.13994
GO Exome Sequencing Project European American Sub 8600 C=0.8090 T=0.1910
GO Exome Sequencing Project African American Sub 4406 C=0.9598 T=0.0402
1000Genomes Global Study-wide 5008 C=0.9187 T=0.0813
1000Genomes African Sub 1322 C=0.9939 T=0.0061
1000Genomes East Asian Sub 1008 C=0.9276 T=0.0724
1000Genomes Europe Sub 1006 C=0.8141 T=0.1859
1000Genomes South Asian Sub 978 C=0.926 T=0.074
1000Genomes American Sub 694 C=0.903 T=0.097
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.7335 T=0.2665
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.8166 T=0.1834
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.8263 T=0.1737
KOREAN population from KRGDB KOREAN Study-wide 2926 C=0.9269 T=0.0731
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.825 T=0.175
A Vietnamese Genetic Variation Database Global Study-wide 605 C=0.954 T=0.046
Northern Sweden ACPOP Study-wide 600 C=0.758 T=0.242
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.876 T=0.124
FINRISK Finnish from FINRISK project Study-wide 288 C=0.816 T=0.184
Qatari Global Study-wide 216 C=0.861 T=0.139
SGDP_PRJ Global Study-wide 120 C=0.450 T=0.550
The Danish reference pan genome Danish Study-wide 40 C=0.75 T=0.25
Siberian Global Study-wide 20 C=0.45 T=0.55
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 C= G T
GRCh38.p13 chr 1 NC_000001.11:g.17634850= NC_000001.11:g.17634850C>G NC_000001.11:g.17634850C>T
GRCh37.p13 chr 1 NC_000001.10:g.17961345= NC_000001.10:g.17961345C>G NC_000001.10:g.17961345C>T
ARHGEF10L RefSeqGene NG_050860.1:g.119654= NG_050860.1:g.119654C>G NG_050860.1:g.119654C>T
ARHGEF10L transcript variant 1 NM_018125.4:c.1761= NM_018125.4:c.1761C>G NM_018125.4:c.1761C>T
ARHGEF10L transcript variant 1 NM_018125.3:c.1761= NM_018125.3:c.1761C>G NM_018125.3:c.1761C>T
ARHGEF10L transcript variant 6 NR_137287.2:n.2060= NR_137287.2:n.2060C>G NR_137287.2:n.2060C>T
ARHGEF10L transcript variant 6 NR_137287.1:n.1923= NR_137287.1:n.1923C>G NR_137287.1:n.1923C>T
ARHGEF10L transcript variant 7 NR_137288.2:n.1940= NR_137288.2:n.1940C>G NR_137288.2:n.1940C>T
ARHGEF10L transcript variant 7 NR_137288.1:n.1803= NR_137288.1:n.1803C>G NR_137288.1:n.1803C>T
ARHGEF10L transcript variant 2 NM_001011722.2:c.1644= NM_001011722.2:c.1644C>G NM_001011722.2:c.1644C>T
ARHGEF10L transcript variant 3 NM_001319837.1:c.1629= NM_001319837.1:c.1629C>G NM_001319837.1:c.1629C>T
ARHGEF10L transcript variant 5 NM_001328124.1:c.1095= NM_001328124.1:c.1095C>G NM_001328124.1:c.1095C>T
ARHGEF10L transcript variant 4 NM_001319838.1:c.870= NM_001319838.1:c.870C>G NM_001319838.1:c.870C>T
ARHGEF10L transcript variant X15 XM_005245929.3:c.1080= XM_005245929.3:c.1080C>G XM_005245929.3:c.1080C>T
ARHGEF10L transcript variant X9 XM_005245929.1:c.1080= XM_005245929.1:c.1080C>G XM_005245929.1:c.1080C>T
ARHGEF10L transcript variant X13 XR_946686.3:n.1785= XR_946686.3:n.1785C>G XR_946686.3:n.1785C>T
ARHGEF10L transcript variant X2 XM_005245923.2:c.1656= XM_005245923.2:c.1656C>G XM_005245923.2:c.1656C>T
ARHGEF10L transcript variant X3 XM_005245923.1:c.1656= XM_005245923.1:c.1656C>G XM_005245923.1:c.1656C>T
ARHGEF10L transcript variant X8 XM_011541691.2:c.1647= XM_011541691.2:c.1647C>G XM_011541691.2:c.1647C>T
ARHGEF10L transcript variant X10 XM_011541692.2:c.1641= XM_011541692.2:c.1641C>G XM_011541692.2:c.1641C>T
ARHGEF10L transcript variant X9 XM_005245925.2:c.1644= XM_005245925.2:c.1644C>G XM_005245925.2:c.1644C>T
ARHGEF10L transcript variant X5 XM_005245925.1:c.1644= XM_005245925.1:c.1644C>G XM_005245925.1:c.1644C>T
ARHGEF10L transcript variant X11 XM_011541693.2:c.1632= XM_011541693.2:c.1632C>G XM_011541693.2:c.1632C>T
ARHGEF10L transcript variant X22 XR_946690.2:n.1786= XR_946690.2:n.1786C>G XR_946690.2:n.1786C>T
ARHGEF10L transcript variant X20 XR_946688.2:n.1785= XR_946688.2:n.1785C>G XR_946688.2:n.1785C>T
ARHGEF10L transcript variant X21 XR_946689.2:n.1776= XR_946689.2:n.1776C>G XR_946689.2:n.1776C>T
ARHGEF10L transcript variant X24 XR_946691.2:n.1785= XR_946691.2:n.1785C>G XR_946691.2:n.1785C>T
ARHGEF10L transcript variant X17 XM_017001619.1:c.1656= XM_017001619.1:c.1656C>G XM_017001619.1:c.1656C>T
ARHGEF10L transcript variant X18 XM_017001620.1:c.1641= XM_017001620.1:c.1641C>G XM_017001620.1:c.1641C>T
ARHGEF10L transcript variant X23 XR_002956988.1:n.1785= XR_002956988.1:n.1785C>G XR_002956988.1:n.1785C>T
ARHGEF10L transcript variant X25 XR_002956989.1:n.1770= XR_002956989.1:n.1770C>G XR_002956989.1:n.1770C>T
ARHGEF10L transcript variant X1 XM_006710728.1:c.1656= XM_006710728.1:c.1656C>G XM_006710728.1:c.1656C>T
ARHGEF10L transcript variant X6 XM_006710731.1:c.1653= XM_006710731.1:c.1653C>G XM_006710731.1:c.1653C>T
ARHGEF10L transcript variant X26 XM_017001621.1:c.1761= XM_017001621.1:c.1761C>G XM_017001621.1:c.1761C>T
ARHGEF10L transcript variant X27 XM_017001622.1:c.1746= XM_017001622.1:c.1746C>G XM_017001622.1:c.1746C>T
ARHGEF10L transcript variant X3 XM_024448059.1:c.1656= XM_024448059.1:c.1656C>G XM_024448059.1:c.1656C>T
ARHGEF10L transcript variant X4 XM_024448061.1:c.1656= XM_024448061.1:c.1656C>G XM_024448061.1:c.1656C>T
ARHGEF10L transcript variant X7 XM_006710729.1:c.1653= XM_006710729.1:c.1653C>G XM_006710729.1:c.1653C>T
ARHGEF10L transcript variant X12 XM_017001617.1:c.1629= XM_017001617.1:c.1629C>G XM_017001617.1:c.1629C>T
ARHGEF10L transcript variant X5 XM_024448062.1:c.1656= XM_024448062.1:c.1656C>G XM_024448062.1:c.1656C>T
ARHGEF10L transcript variant X19 XR_001737277.1:n.1785= XR_001737277.1:n.1785C>G XR_001737277.1:n.1785C>T
ARHGEF10L transcript variant X14 XR_001737276.1:n.1786= XR_001737276.1:n.1786C>G XR_001737276.1:n.1786C>T
ARHGEF10L transcript variant X16 XM_017001618.1:c.1050= XM_017001618.1:c.1050C>G XM_017001618.1:c.1050C>T
rho guanine nucleotide exchange factor 10-like protein isoform 1 NP_060595.3:p.Ile587= NP_060595.3:p.Ile587Met NP_060595.3:p.Ile587=
rho guanine nucleotide exchange factor 10-like protein isoform 2 NP_001011722.2:p.Ile548= NP_001011722.2:p.Ile548Met NP_001011722.2:p.Ile548=
rho guanine nucleotide exchange factor 10-like protein isoform 3 NP_001306766.1:p.Ile543= NP_001306766.1:p.Ile543Met NP_001306766.1:p.Ile543=
rho guanine nucleotide exchange factor 10-like protein isoform 5 NP_001315053.1:p.Ile365= NP_001315053.1:p.Ile365Met NP_001315053.1:p.Ile365=
rho guanine nucleotide exchange factor 10-like protein isoform 4 NP_001306767.1:p.Ile290= NP_001306767.1:p.Ile290Met NP_001306767.1:p.Ile290=
rho guanine nucleotide exchange factor 10-like protein isoform X8 XP_005245986.2:p.Ile360= XP_005245986.2:p.Ile360Met XP_005245986.2:p.Ile360=
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_005245980.2:p.Ile552= XP_005245980.2:p.Ile552Met XP_005245980.2:p.Ile552=
rho guanine nucleotide exchange factor 10-like protein isoform X3 XP_011539993.1:p.Ile549= XP_011539993.1:p.Ile549Met XP_011539993.1:p.Ile549=
rho guanine nucleotide exchange factor 10-like protein isoform X5 XP_011539994.1:p.Ile547= XP_011539994.1:p.Ile547Met XP_011539994.1:p.Ile547=
rho guanine nucleotide exchange factor 10-like protein isoform X4 XP_005245982.2:p.Ile548= XP_005245982.2:p.Ile548Met XP_005245982.2:p.Ile548=
rho guanine nucleotide exchange factor 10-like protein isoform X6 XP_011539995.1:p.Ile544= XP_011539995.1:p.Ile544Met XP_011539995.1:p.Ile544=
rho guanine nucleotide exchange factor 10-like protein isoform X10 XP_016857108.1:p.Ile552= XP_016857108.1:p.Ile552Met XP_016857108.1:p.Ile552=
rho guanine nucleotide exchange factor 10-like protein isoform X11 XP_016857109.1:p.Ile547= XP_016857109.1:p.Ile547Met XP_016857109.1:p.Ile547=
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_006710791.1:p.Ile552= XP_006710791.1:p.Ile552Met XP_006710791.1:p.Ile552=
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710794.1:p.Ile551= XP_006710794.1:p.Ile551Met XP_006710794.1:p.Ile551=
rho guanine nucleotide exchange factor 10-like protein isoform X12 XP_016857110.1:p.Ile587= XP_016857110.1:p.Ile587Met XP_016857110.1:p.Ile587=
rho guanine nucleotide exchange factor 10-like protein isoform X13 XP_016857111.1:p.Ile582= XP_016857111.1:p.Ile582Met XP_016857111.1:p.Ile582=
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303827.1:p.Ile552= XP_024303827.1:p.Ile552Met XP_024303827.1:p.Ile552=
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303829.1:p.Ile552= XP_024303829.1:p.Ile552Met XP_024303829.1:p.Ile552=
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710792.1:p.Ile551= XP_006710792.1:p.Ile551Met XP_006710792.1:p.Ile551=
rho guanine nucleotide exchange factor 10-like protein isoform X7 XP_016857106.1:p.Ile543= XP_016857106.1:p.Ile543Met XP_016857106.1:p.Ile543=
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303830.1:p.Ile552= XP_024303830.1:p.Ile552Met XP_024303830.1:p.Ile552=
rho guanine nucleotide exchange factor 10-like protein isoform X9 XP_016857107.1:p.Ile350= XP_016857107.1:p.Ile350Met XP_016857107.1:p.Ile350=
Rho guanine nucleotide exchange factor (GEF) 10-like isoform X3 XP_005245980.1:p.Ile552= XP_005245980.1:p.Ile552Met XP_005245980.1:p.Ile552=
Rho guanine nucleotide exchange factor (GEF) 10-like isoform X5 XP_005245982.1:p.Ile548= XP_005245982.1:p.Ile548Met XP_005245982.1:p.Ile548=
Rho guanine nucleotide exchange factor (GEF) 10-like isoform X9 XP_005245986.1:p.Ile360= XP_005245986.1:p.Ile360Met XP_005245986.1:p.Ile360=
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#.

74 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 APPLERA_GI ss48415346 Mar 14, 2006 (126)
2 CANCER-GENOME ss86341861 Mar 23, 2008 (130)
3 SEATTLESEQ ss159696408 Dec 01, 2009 (131)
4 1000GENOMES ss217314433 Jul 14, 2010 (132)
5 1000GENOMES ss217390884 Jul 14, 2010 (132)
6 1000GENOMES ss217392121 Jul 14, 2010 (132)
7 1000GENOMES ss217410543 Jul 14, 2010 (132)
8 1000GENOMES ss230444675 Jul 14, 2010 (132)
9 1000GENOMES ss238156028 Jul 15, 2010 (132)
10 GMI ss275736164 May 04, 2012 (137)
11 NHLBI-ESP ss341939229 May 09, 2011 (134)
12 ILLUMINA ss482156078 May 04, 2012 (137)
13 ILLUMINA ss483527909 May 04, 2012 (137)
14 1000GENOMES ss489724823 May 04, 2012 (137)
15 CLINSEQ_SNP ss491587181 May 04, 2012 (137)
16 ILLUMINA ss535735520 Sep 08, 2015 (146)
17 SSMP ss647610524 Apr 25, 2013 (138)
18 ILLUMINA ss780311320 Sep 08, 2015 (146)
19 ILLUMINA ss782207509 Sep 08, 2015 (146)
20 ILLUMINA ss835798267 Sep 08, 2015 (146)
21 EVA-GONL ss974902402 Aug 21, 2014 (142)
22 JMKIDD_LAB ss1067417149 Aug 21, 2014 (142)
23 JMKIDD_LAB ss1067702631 Aug 21, 2014 (142)
24 1000GENOMES ss1289866478 Aug 21, 2014 (142)
25 DDI ss1425730816 Apr 01, 2015 (144)
26 EVA_GENOME_DK ss1573914406 Apr 01, 2015 (144)
27 EVA_FINRISK ss1584005281 Apr 01, 2015 (144)
28 EVA_DECODE ss1584259572 Apr 01, 2015 (144)
29 EVA_UK10K_ALSPAC ss1599636236 Apr 01, 2015 (144)
30 EVA_UK10K_TWINSUK ss1642630269 Apr 01, 2015 (144)
31 EVA_EXAC ss1685351075 Apr 01, 2015 (144)
32 EVA_MGP ss1710892563 Apr 01, 2015 (144)
33 WEILL_CORNELL_DGM ss1918112497 Feb 12, 2016 (147)
34 ILLUMINA ss1958247709 Feb 12, 2016 (147)
35 GENOMED ss1966695059 Jul 19, 2016 (147)
36 JJLAB ss2019567569 Sep 14, 2016 (149)
37 USC_VALOUEV ss2147569914 Dec 20, 2016 (150)
38 HUMAN_LONGEVITY ss2160380214 Dec 20, 2016 (150)
39 TOPMED ss2322560942 Dec 20, 2016 (150)
40 SYSTEMSBIOZJU ss2624300095 Nov 08, 2017 (151)
41 ILLUMINA ss2632483560 Nov 08, 2017 (151)
42 GRF ss2697473706 Nov 08, 2017 (151)
43 GNOMAD ss2731192378 Nov 08, 2017 (151)
44 GNOMAD ss2746239929 Nov 08, 2017 (151)
45 GNOMAD ss2752193855 Nov 08, 2017 (151)
46 SWEGEN ss2986396843 Nov 08, 2017 (151)
47 ILLUMINA ss3021060990 Nov 08, 2017 (151)
48 BIOINF_KMB_FNS_UNIBA ss3023548376 Nov 08, 2017 (151)
49 TOPMED ss3069851204 Nov 08, 2017 (151)
50 CSHL ss3343345988 Nov 08, 2017 (151)
51 ILLUMINA ss3626037291 Oct 11, 2018 (152)
52 ILLUMINA ss3630521552 Oct 11, 2018 (152)
53 ILLUMINA ss3641575092 Oct 11, 2018 (152)
54 OMUKHERJEE_ADBS ss3646225696 Oct 11, 2018 (152)
55 ILLUMINA ss3651385495 Oct 11, 2018 (152)
56 EGCUT_WGS ss3654465349 Jul 12, 2019 (153)
57 EVA_DECODE ss3686258656 Jul 12, 2019 (153)
58 ACPOP ss3726831768 Jul 12, 2019 (153)
59 EVA ss3745885855 Jul 12, 2019 (153)
60 PAGE_CC ss3770789315 Jul 12, 2019 (153)
61 KHV_HUMAN_GENOMES ss3798907908 Jul 12, 2019 (153)
62 EVA ss3823569112 Apr 25, 2020 (154)
63 EVA ss3825555470 Apr 25, 2020 (154)
64 EVA ss3826047706 Apr 25, 2020 (154)
65 EVA ss3836412011 Apr 25, 2020 (154)
66 EVA ss3841816317 Apr 25, 2020 (154)
67 SGDP_PRJ ss3848316751 Apr 25, 2020 (154)
68 KRGDB ss3893220690 Apr 25, 2020 (154)
69 FSA-LAB ss3983919982 Apr 27, 2021 (155)
70 FSA-LAB ss3983919983 Apr 27, 2021 (155)
71 EVA ss3986103682 Apr 27, 2021 (155)
72 TOPMED ss4440710209 Apr 27, 2021 (155)
73 TOMMO_GENOMICS ss5142732242 Apr 27, 2021 (155)
74 EVA ss5236865346 Apr 27, 2021 (155)
75 1000Genomes NC_000001.10 - 17961345 Oct 11, 2018 (152)
76 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 17961345 Oct 11, 2018 (152)
77 Genetic variation in the Estonian population NC_000001.10 - 17961345 Oct 11, 2018 (152)
78 ExAC NC_000001.10 - 17961345 Oct 11, 2018 (152)
79 FINRISK NC_000001.10 - 17961345 Apr 25, 2020 (154)
80 The Danish reference pan genome NC_000001.10 - 17961345 Apr 25, 2020 (154)
81 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 3844922 (NC_000001.11:17634849:C:G 0/140212)
Row 3844923 (NC_000001.11:17634849:C:T 19607/140184)

- Apr 27, 2021 (155)
82 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 3844922 (NC_000001.11:17634849:C:G 0/140212)
Row 3844923 (NC_000001.11:17634849:C:T 19607/140184)

- Apr 27, 2021 (155)
83 gnomAD - Exomes NC_000001.10 - 17961345 Jul 12, 2019 (153)
84 GO Exome Sequencing Project NC_000001.10 - 17961345 Oct 11, 2018 (152)
85 Genome of the Netherlands Release 5 NC_000001.10 - 17961345 Apr 25, 2020 (154)
86 KOREAN population from KRGDB NC_000001.10 - 17961345 Apr 25, 2020 (154)
87 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 17961345 Apr 25, 2020 (154)
88 Northern Sweden NC_000001.10 - 17961345 Jul 12, 2019 (153)
89 The PAGE Study NC_000001.11 - 17634850 Jul 12, 2019 (153)
90 Qatari NC_000001.10 - 17961345 Apr 25, 2020 (154)
91 SGDP_PRJ NC_000001.10 - 17961345 Apr 25, 2020 (154)
92 Siberian NC_000001.10 - 17961345 Apr 25, 2020 (154)
93 8.3KJPN NC_000001.10 - 17961345 Apr 27, 2021 (155)
94 TopMed NC_000001.11 - 17634850 Apr 27, 2021 (155)
95 UK 10K study - Twins NC_000001.10 - 17961345 Oct 11, 2018 (152)
96 A Vietnamese Genetic Variation Database NC_000001.10 - 17961345 Jul 12, 2019 (153)
97 ALFA NC_000001.11 - 17634850 Apr 27, 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).

Associated ID History Updated (Build)
rs61749345 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
2662229794 NC_000001.11:17634849:C:G NC_000001.11:17634849:C:G
ss217314433, ss217390884, ss217392121, ss217410543, ss275736164, ss482156078, ss491587181, ss1584259572 NC_000001.9:17833931:C:T NC_000001.11:17634849:C:T (self)
548949, 283995, 203597, 4533657, 1742, 1408247, 204974, 27830, 124164, 398084, 9315, 116633, 154427, 333731, 86268, 701549, 283995, 60631, ss230444675, ss238156028, ss341939229, ss483527909, ss489724823, ss535735520, ss647610524, ss780311320, ss782207509, ss835798267, ss974902402, ss1067417149, ss1067702631, ss1289866478, ss1425730816, ss1573914406, ss1584005281, ss1599636236, ss1642630269, ss1685351075, ss1710892563, ss1918112497, ss1958247709, ss1966695059, ss2019567569, ss2147569914, ss2322560942, ss2624300095, ss2632483560, ss2697473706, ss2731192378, ss2746239929, ss2752193855, ss2986396843, ss3021060990, ss3343345988, ss3626037291, ss3630521552, ss3641575092, ss3646225696, ss3651385495, ss3654465349, ss3726831768, ss3745885855, ss3823569112, ss3825555470, ss3826047706, ss3836412011, ss3848316751, ss3893220690, ss3983919982, ss3983919983, ss3986103682, ss5142732242 NC_000001.10:17961344:C:T NC_000001.11:17634849:C:T (self)
10784, 2709788, 4316544, 2662229794, ss2160380214, ss3023548376, ss3069851204, ss3686258656, ss3770789315, ss3798907908, ss3841816317, ss4440710209, ss5236865346 NC_000001.11:17634849:C:T NC_000001.11:17634849:C:T (self)
ss48415346, ss86341861, ss159696408 NT_004610.19:4641432:C:T NC_000001.11:17634849:C:T (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 rs34725104

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