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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.

rs114123617

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:17602164 (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
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.025154 (6658/264690, TOPMED)
A=0.002603 (529/203240, ALFA)
A=0.024716 (3467/140274, GnomAD) (+ 6 more)
A=0.03862 (2986/77308, PAGE_STUDY)
A=0.01699 (481/28318, ExAC)
A=0.02524 (327/12956, GO-ESP)
A=0.0224 (112/5008, 1000G)
A=0.023 (5/216, Qatari)
G=0.43 (6/14, SGDP_PRJ)
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.17602164G>A
GRCh38.p13 chr 1 NC_000001.11:g.17602164G>T
GRCh37.p13 chr 1 NC_000001.10:g.17928659G>A
GRCh37.p13 chr 1 NC_000001.10:g.17928659G>T
ARHGEF10L RefSeqGene NG_050860.1:g.86968G>A
ARHGEF10L RefSeqGene NG_050860.1:g.86968G>T
Gene: ARHGEF10L, Rho guanine nucleotide exchange factor 10 like (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ARHGEF10L transcript variant 4 NM_001319838.1:c. N/A Genic Upstream Transcript Variant
ARHGEF10L transcript variant 5 NM_001328124.1:c. N/A Genic Upstream Transcript Variant
ARHGEF10L transcript variant 2 NM_001011722.2:c.295G>A A [GCA] > T [ACA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 2 NP_001011722.2:p.Ala99Thr A (Ala) > T (Thr) Missense Variant
ARHGEF10L transcript variant 2 NM_001011722.2:c.295G>T A [GCA] > S [TCA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 2 NP_001011722.2:p.Ala99Ser A (Ala) > S (Ser) Missense Variant
ARHGEF10L transcript variant 3 NM_001319837.1:c.295G>A A [GCA] > T [ACA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 3 NP_001306766.1:p.Ala99Thr A (Ala) > T (Thr) Missense Variant
ARHGEF10L transcript variant 3 NM_001319837.1:c.295G>T A [GCA] > S [TCA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 3 NP_001306766.1:p.Ala99Ser A (Ala) > S (Ser) Missense Variant
ARHGEF10L transcript variant 1 NM_018125.4:c.295G>A A [GCA] > T [ACA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 1 NP_060595.3:p.Ala99Thr A (Ala) > T (Thr) Missense Variant
ARHGEF10L transcript variant 1 NM_018125.4:c.295G>T A [GCA] > S [TCA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 1 NP_060595.3:p.Ala99Ser A (Ala) > S (Ser) Missense Variant
ARHGEF10L transcript variant 6 NR_137287.2:n.591G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant 6 NR_137287.2:n.591G>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant 7 NR_137288.2:n.591G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant 7 NR_137288.2:n.591G>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X15 XM_005245929.3:c. N/A Genic Upstream Transcript Variant
ARHGEF10L transcript variant X16 XM_017001618.1:c. N/A Genic Upstream Transcript Variant
ARHGEF10L transcript variant X2 XM_005245923.2:c.295G>A A [GCA] > T [ACA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_005245980.2:p.Ala99Thr A (Ala) > T (Thr) Missense Variant
ARHGEF10L transcript variant X2 XM_005245923.2:c.295G>T A [GCA] > S [TCA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_005245980.2:p.Ala99Ser A (Ala) > S (Ser) Missense Variant
ARHGEF10L transcript variant X1 XM_006710728.1:c.295G>A A [GCA] > T [ACA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_006710791.1:p.Ala99Thr A (Ala) > T (Thr) Missense Variant
ARHGEF10L transcript variant X1 XM_006710728.1:c.295G>T A [GCA] > S [TCA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_006710791.1:p.Ala99Ser A (Ala) > S (Ser) Missense Variant
ARHGEF10L transcript variant X7 XM_006710729.1:c.295G>A A [GCA] > T [ACA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710792.1:p.Ala99Thr A (Ala) > T (Thr) Missense Variant
ARHGEF10L transcript variant X7 XM_006710729.1:c.295G>T A [GCA] > S [TCA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710792.1:p.Ala99Ser A (Ala) > S (Ser) Missense Variant
ARHGEF10L transcript variant X6 XM_006710731.1:c.295G>A A [GCA] > T [ACA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710794.1:p.Ala99Thr A (Ala) > T (Thr) Missense Variant
ARHGEF10L transcript variant X6 XM_006710731.1:c.295G>T A [GCA] > S [TCA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710794.1:p.Ala99Ser A (Ala) > S (Ser) Missense Variant
ARHGEF10L transcript variant X9 XM_005245925.2:c.295G>A A [GCA] > T [ACA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X4 XP_005245982.2:p.Ala99Thr A (Ala) > T (Thr) Missense Variant
ARHGEF10L transcript variant X9 XM_005245925.2:c.295G>T A [GCA] > S [TCA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X4 XP_005245982.2:p.Ala99Ser A (Ala) > S (Ser) Missense Variant
ARHGEF10L transcript variant X8 XM_011541691.2:c.295G>A A [GCA] > T [ACA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X3 XP_011539993.1:p.Ala99Thr A (Ala) > T (Thr) Missense Variant
ARHGEF10L transcript variant X8 XM_011541691.2:c.295G>T A [GCA] > S [TCA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X3 XP_011539993.1:p.Ala99Ser A (Ala) > S (Ser) Missense Variant
ARHGEF10L transcript variant X10 XM_011541692.2:c.295G>A A [GCA] > T [ACA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X5 XP_011539994.1:p.Ala99Thr A (Ala) > T (Thr) Missense Variant
ARHGEF10L transcript variant X10 XM_011541692.2:c.295G>T A [GCA] > S [TCA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X5 XP_011539994.1:p.Ala99Ser A (Ala) > S (Ser) Missense Variant
ARHGEF10L transcript variant X11 XM_011541693.2:c.295G>A A [GCA] > T [ACA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X6 XP_011539995.1:p.Ala99Thr A (Ala) > T (Thr) Missense Variant
ARHGEF10L transcript variant X11 XM_011541693.2:c.295G>T A [GCA] > S [TCA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X6 XP_011539995.1:p.Ala99Ser A (Ala) > S (Ser) Missense Variant
ARHGEF10L transcript variant X12 XM_017001617.1:c.295G>A A [GCA] > T [ACA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X7 XP_016857106.1:p.Ala99Thr A (Ala) > T (Thr) Missense Variant
ARHGEF10L transcript variant X12 XM_017001617.1:c.295G>T A [GCA] > S [TCA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X7 XP_016857106.1:p.Ala99Ser A (Ala) > S (Ser) Missense Variant
ARHGEF10L transcript variant X17 XM_017001619.1:c.295G>A A [GCA] > T [ACA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X10 XP_016857108.1:p.Ala99Thr A (Ala) > T (Thr) Missense Variant
ARHGEF10L transcript variant X17 XM_017001619.1:c.295G>T A [GCA] > S [TCA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X10 XP_016857108.1:p.Ala99Ser A (Ala) > S (Ser) Missense Variant
ARHGEF10L transcript variant X18 XM_017001620.1:c.295G>A A [GCA] > T [ACA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X11 XP_016857109.1:p.Ala99Thr A (Ala) > T (Thr) Missense Variant
ARHGEF10L transcript variant X18 XM_017001620.1:c.295G>T A [GCA] > S [TCA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X11 XP_016857109.1:p.Ala99Ser A (Ala) > S (Ser) Missense Variant
ARHGEF10L transcript variant X26 XM_017001621.1:c.295G>A A [GCA] > T [ACA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X12 XP_016857110.1:p.Ala99Thr A (Ala) > T (Thr) Missense Variant
ARHGEF10L transcript variant X26 XM_017001621.1:c.295G>T A [GCA] > S [TCA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X12 XP_016857110.1:p.Ala99Ser A (Ala) > S (Ser) Missense Variant
ARHGEF10L transcript variant X27 XM_017001622.1:c.295G>A A [GCA] > T [ACA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X13 XP_016857111.1:p.Ala99Thr A (Ala) > T (Thr) Missense Variant
ARHGEF10L transcript variant X27 XM_017001622.1:c.295G>T A [GCA] > S [TCA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X13 XP_016857111.1:p.Ala99Ser A (Ala) > S (Ser) Missense Variant
ARHGEF10L transcript variant X3 XM_024448059.1:c.295G>A A [GCA] > T [ACA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303827.1:p.Ala99Thr A (Ala) > T (Thr) Missense Variant
ARHGEF10L transcript variant X3 XM_024448059.1:c.295G>T A [GCA] > S [TCA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303827.1:p.Ala99Ser A (Ala) > S (Ser) Missense Variant
ARHGEF10L transcript variant X4 XM_024448061.1:c.295G>A A [GCA] > T [ACA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303829.1:p.Ala99Thr A (Ala) > T (Thr) Missense Variant
ARHGEF10L transcript variant X4 XM_024448061.1:c.295G>T A [GCA] > S [TCA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303829.1:p.Ala99Ser A (Ala) > S (Ser) Missense Variant
ARHGEF10L transcript variant X5 XM_024448062.1:c.295G>A A [GCA] > T [ACA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303830.1:p.Ala99Thr A (Ala) > T (Thr) Missense Variant
ARHGEF10L transcript variant X5 XM_024448062.1:c.295G>T A [GCA] > S [TCA] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303830.1:p.Ala99Ser A (Ala) > S (Ser) Missense Variant
ARHGEF10L transcript variant X14 XR_001737276.1:n.437G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X14 XR_001737276.1:n.437G>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X19 XR_001737277.1:n.424G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X19 XR_001737277.1:n.424G>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X20 XR_946688.2:n.424G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X20 XR_946688.2:n.424G>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X21 XR_946689.2:n.424G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X21 XR_946689.2:n.424G>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X22 XR_946690.2:n.437G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X22 XR_946690.2:n.437G>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X24 XR_946691.2:n.424G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X24 XR_946691.2:n.424G>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X13 XR_946686.3:n.424G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X13 XR_946686.3:n.424G>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X23 XR_002956988.1:n.424G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X23 XR_002956988.1:n.424G>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X25 XR_002956989.1:n.424G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X25 XR_002956989.1:n.424G>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 203240 G=0.997397 A=0.002603
European Sub 174022 G=0.999500 A=0.000500
African Sub 4928 G=0.9259 A=0.0741
African Others Sub 174 G=0.868 A=0.132
African American Sub 4754 G=0.9281 A=0.0719
Asian Sub 6292 G=1.0000 A=0.0000
East Asian Sub 4444 G=1.0000 A=0.0000
Other Asian Sub 1848 G=1.0000 A=0.0000
Latin American 1 Sub 796 G=0.979 A=0.021
Latin American 2 Sub 968 G=0.999 A=0.001
South Asian Sub 274 G=1.000 A=0.000
Other Sub 15960 G=0.99630 A=0.00370


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=0.974846 A=0.025154
Allele Frequency Aggregator Total Global 203240 G=0.997397 A=0.002603
Allele Frequency Aggregator European Sub 174022 G=0.999500 A=0.000500
Allele Frequency Aggregator Other Sub 15960 G=0.99630 A=0.00370
Allele Frequency Aggregator Asian Sub 6292 G=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 4928 G=0.9259 A=0.0741
Allele Frequency Aggregator Latin American 2 Sub 968 G=0.999 A=0.001
Allele Frequency Aggregator Latin American 1 Sub 796 G=0.979 A=0.021
Allele Frequency Aggregator South Asian Sub 274 G=1.000 A=0.000
gnomAD - Genomes Global Study-wide 140274 G=0.975284 A=0.024716
gnomAD - Genomes European Sub 75966 G=0.99966 A=0.00034
gnomAD - Genomes African Sub 42034 G=0.92111 A=0.07889
gnomAD - Genomes American Sub 13666 G=0.99305 A=0.00695
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.9994 A=0.0006
gnomAD - Genomes East Asian Sub 3134 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2150 G=0.9870 A=0.0130
The PAGE Study Global Study-wide 77308 G=0.96138 A=0.03862
The PAGE Study AfricanAmerican Sub 31694 G=0.92027 A=0.07973
The PAGE Study Mexican Sub 10724 G=0.99655 A=0.00345
The PAGE Study Asian Sub 8200 G=0.9989 A=0.0011
The PAGE Study PuertoRican Sub 7812 G=0.9832 A=0.0168
The PAGE Study NativeHawaiian Sub 4424 G=0.9989 A=0.0011
The PAGE Study Cuban Sub 4200 G=0.9824 A=0.0176
The PAGE Study Dominican Sub 3770 G=0.9615 A=0.0385
The PAGE Study CentralAmerican Sub 2432 G=0.9877 A=0.0123
The PAGE Study SouthAmerican Sub 1964 G=0.9949 A=0.0051
The PAGE Study NativeAmerican Sub 1252 G=0.9856 A=0.0144
The PAGE Study SouthAsian Sub 836 G=1.000 A=0.000
ExAC Global Study-wide 28318 G=0.98301 A=0.01699
ExAC Europe Sub 13644 G=0.99897 A=0.00103
ExAC Asian Sub 9286 G=0.9995 A=0.0005
ExAC African Sub 3652 G=0.8779 A=0.1221
ExAC American Sub 1496 G=0.9906 A=0.0094
ExAC Other Sub 240 G=0.992 A=0.008
GO Exome Sequencing Project Global Study-wide 12956 G=0.97476 A=0.02524
GO Exome Sequencing Project European American Sub 8578 G=0.9998 A=0.0002
GO Exome Sequencing Project African American Sub 4378 G=0.9258 A=0.0742
1000Genomes Global Study-wide 5008 G=0.9776 A=0.0224
1000Genomes African Sub 1322 G=0.9183 A=0.0817
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=0.9990 A=0.0010
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=0.996 A=0.004
Qatari Global Study-wide 216 G=0.977 A=0.023
SGDP_PRJ Global Study-wide 14 G=0.43 A=0.57
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 T
GRCh38.p13 chr 1 NC_000001.11:g.17602164= NC_000001.11:g.17602164G>A NC_000001.11:g.17602164G>T
GRCh37.p13 chr 1 NC_000001.10:g.17928659= NC_000001.10:g.17928659G>A NC_000001.10:g.17928659G>T
ARHGEF10L RefSeqGene NG_050860.1:g.86968= NG_050860.1:g.86968G>A NG_050860.1:g.86968G>T
ARHGEF10L transcript variant 1 NM_018125.4:c.295= NM_018125.4:c.295G>A NM_018125.4:c.295G>T
ARHGEF10L transcript variant 1 NM_018125.3:c.295= NM_018125.3:c.295G>A NM_018125.3:c.295G>T
ARHGEF10L transcript variant 6 NR_137287.2:n.591= NR_137287.2:n.591G>A NR_137287.2:n.591G>T
ARHGEF10L transcript variant 6 NR_137287.1:n.454= NR_137287.1:n.454G>A NR_137287.1:n.454G>T
ARHGEF10L transcript variant 7 NR_137288.2:n.591= NR_137288.2:n.591G>A NR_137288.2:n.591G>T
ARHGEF10L transcript variant 7 NR_137288.1:n.454= NR_137288.1:n.454G>A NR_137288.1:n.454G>T
ARHGEF10L transcript variant 2 NM_001011722.2:c.295= NM_001011722.2:c.295G>A NM_001011722.2:c.295G>T
ARHGEF10L transcript variant 3 NM_001319837.1:c.295= NM_001319837.1:c.295G>A NM_001319837.1:c.295G>T
ARHGEF10L transcript variant X13 XR_946686.3:n.424= XR_946686.3:n.424G>A XR_946686.3:n.424G>T
ARHGEF10L transcript variant X2 XM_005245923.2:c.295= XM_005245923.2:c.295G>A XM_005245923.2:c.295G>T
ARHGEF10L transcript variant X3 XM_005245923.1:c.295= XM_005245923.1:c.295G>A XM_005245923.1:c.295G>T
ARHGEF10L transcript variant X8 XM_011541691.2:c.295= XM_011541691.2:c.295G>A XM_011541691.2:c.295G>T
ARHGEF10L transcript variant X10 XM_011541692.2:c.295= XM_011541692.2:c.295G>A XM_011541692.2:c.295G>T
ARHGEF10L transcript variant X9 XM_005245925.2:c.295= XM_005245925.2:c.295G>A XM_005245925.2:c.295G>T
ARHGEF10L transcript variant X5 XM_005245925.1:c.295= XM_005245925.1:c.295G>A XM_005245925.1:c.295G>T
ARHGEF10L transcript variant X11 XM_011541693.2:c.295= XM_011541693.2:c.295G>A XM_011541693.2:c.295G>T
ARHGEF10L transcript variant X22 XR_946690.2:n.437= XR_946690.2:n.437G>A XR_946690.2:n.437G>T
ARHGEF10L transcript variant X20 XR_946688.2:n.424= XR_946688.2:n.424G>A XR_946688.2:n.424G>T
ARHGEF10L transcript variant X21 XR_946689.2:n.424= XR_946689.2:n.424G>A XR_946689.2:n.424G>T
ARHGEF10L transcript variant X24 XR_946691.2:n.424= XR_946691.2:n.424G>A XR_946691.2:n.424G>T
ARHGEF10L transcript variant X17 XM_017001619.1:c.295= XM_017001619.1:c.295G>A XM_017001619.1:c.295G>T
ARHGEF10L transcript variant X18 XM_017001620.1:c.295= XM_017001620.1:c.295G>A XM_017001620.1:c.295G>T
ARHGEF10L transcript variant X23 XR_002956988.1:n.424= XR_002956988.1:n.424G>A XR_002956988.1:n.424G>T
ARHGEF10L transcript variant X25 XR_002956989.1:n.424= XR_002956989.1:n.424G>A XR_002956989.1:n.424G>T
ARHGEF10L transcript variant X1 XM_006710728.1:c.295= XM_006710728.1:c.295G>A XM_006710728.1:c.295G>T
ARHGEF10L transcript variant X6 XM_006710731.1:c.295= XM_006710731.1:c.295G>A XM_006710731.1:c.295G>T
ARHGEF10L transcript variant X26 XM_017001621.1:c.295= XM_017001621.1:c.295G>A XM_017001621.1:c.295G>T
ARHGEF10L transcript variant X27 XM_017001622.1:c.295= XM_017001622.1:c.295G>A XM_017001622.1:c.295G>T
ARHGEF10L transcript variant X3 XM_024448059.1:c.295= XM_024448059.1:c.295G>A XM_024448059.1:c.295G>T
ARHGEF10L transcript variant X4 XM_024448061.1:c.295= XM_024448061.1:c.295G>A XM_024448061.1:c.295G>T
ARHGEF10L transcript variant X7 XM_006710729.1:c.295= XM_006710729.1:c.295G>A XM_006710729.1:c.295G>T
ARHGEF10L transcript variant X12 XM_017001617.1:c.295= XM_017001617.1:c.295G>A XM_017001617.1:c.295G>T
ARHGEF10L transcript variant X5 XM_024448062.1:c.295= XM_024448062.1:c.295G>A XM_024448062.1:c.295G>T
ARHGEF10L transcript variant X19 XR_001737277.1:n.424= XR_001737277.1:n.424G>A XR_001737277.1:n.424G>T
ARHGEF10L transcript variant X14 XR_001737276.1:n.437= XR_001737276.1:n.437G>A XR_001737276.1:n.437G>T
rho guanine nucleotide exchange factor 10-like protein isoform 1 NP_060595.3:p.Ala99= NP_060595.3:p.Ala99Thr NP_060595.3:p.Ala99Ser
rho guanine nucleotide exchange factor 10-like protein isoform 2 NP_001011722.2:p.Ala99= NP_001011722.2:p.Ala99Thr NP_001011722.2:p.Ala99Ser
rho guanine nucleotide exchange factor 10-like protein isoform 3 NP_001306766.1:p.Ala99= NP_001306766.1:p.Ala99Thr NP_001306766.1:p.Ala99Ser
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_005245980.2:p.Ala99= XP_005245980.2:p.Ala99Thr XP_005245980.2:p.Ala99Ser
rho guanine nucleotide exchange factor 10-like protein isoform X3 XP_011539993.1:p.Ala99= XP_011539993.1:p.Ala99Thr XP_011539993.1:p.Ala99Ser
rho guanine nucleotide exchange factor 10-like protein isoform X5 XP_011539994.1:p.Ala99= XP_011539994.1:p.Ala99Thr XP_011539994.1:p.Ala99Ser
rho guanine nucleotide exchange factor 10-like protein isoform X4 XP_005245982.2:p.Ala99= XP_005245982.2:p.Ala99Thr XP_005245982.2:p.Ala99Ser
rho guanine nucleotide exchange factor 10-like protein isoform X6 XP_011539995.1:p.Ala99= XP_011539995.1:p.Ala99Thr XP_011539995.1:p.Ala99Ser
rho guanine nucleotide exchange factor 10-like protein isoform X10 XP_016857108.1:p.Ala99= XP_016857108.1:p.Ala99Thr XP_016857108.1:p.Ala99Ser
rho guanine nucleotide exchange factor 10-like protein isoform X11 XP_016857109.1:p.Ala99= XP_016857109.1:p.Ala99Thr XP_016857109.1:p.Ala99Ser
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_006710791.1:p.Ala99= XP_006710791.1:p.Ala99Thr XP_006710791.1:p.Ala99Ser
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710794.1:p.Ala99= XP_006710794.1:p.Ala99Thr XP_006710794.1:p.Ala99Ser
rho guanine nucleotide exchange factor 10-like protein isoform X12 XP_016857110.1:p.Ala99= XP_016857110.1:p.Ala99Thr XP_016857110.1:p.Ala99Ser
rho guanine nucleotide exchange factor 10-like protein isoform X13 XP_016857111.1:p.Ala99= XP_016857111.1:p.Ala99Thr XP_016857111.1:p.Ala99Ser
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303827.1:p.Ala99= XP_024303827.1:p.Ala99Thr XP_024303827.1:p.Ala99Ser
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303829.1:p.Ala99= XP_024303829.1:p.Ala99Thr XP_024303829.1:p.Ala99Ser
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710792.1:p.Ala99= XP_006710792.1:p.Ala99Thr XP_006710792.1:p.Ala99Ser
rho guanine nucleotide exchange factor 10-like protein isoform X7 XP_016857106.1:p.Ala99= XP_016857106.1:p.Ala99Thr XP_016857106.1:p.Ala99Ser
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303830.1:p.Ala99= XP_024303830.1:p.Ala99Thr XP_024303830.1:p.Ala99Ser
Rho guanine nucleotide exchange factor (GEF) 10-like isoform X3 XP_005245980.1:p.Ala99= XP_005245980.1:p.Ala99Thr XP_005245980.1:p.Ala99Ser
Rho guanine nucleotide exchange factor (GEF) 10-like isoform X5 XP_005245982.1:p.Ala99= XP_005245982.1:p.Ala99Thr XP_005245982.1:p.Ala99Ser
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#.

56 SubSNP, 11 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss210477038 Jul 14, 2010 (132)
2 1000GENOMES ss217405881 Jul 14, 2010 (132)
3 1000GENOMES ss217411001 Jul 14, 2010 (132)
4 1000GENOMES ss218259974 Jul 14, 2010 (132)
5 NHLBI-ESP ss341939138 May 09, 2011 (134)
6 ILLUMINA ss480885695 May 04, 2012 (137)
7 ILLUMINA ss482155578 May 04, 2012 (137)
8 1000GENOMES ss489724737 May 04, 2012 (137)
9 EXOME_CHIP ss491287908 May 04, 2012 (137)
10 ILLUMINA ss534003511 Sep 08, 2015 (146)
11 TISHKOFF ss553843781 Apr 25, 2013 (138)
12 ILLUMINA ss780806377 Sep 08, 2015 (146)
13 ILLUMINA ss781342949 Sep 08, 2015 (146)
14 ILLUMINA ss783488046 Sep 08, 2015 (146)
15 ILLUMINA ss834703696 Sep 08, 2015 (146)
16 JMKIDD_LAB ss1067417125 Aug 21, 2014 (142)
17 JMKIDD_LAB ss1067702460 Aug 21, 2014 (142)
18 1000GENOMES ss1289865382 Aug 21, 2014 (142)
19 EVA_EXAC ss1685350463 Apr 01, 2015 (144)
20 ILLUMINA ss1751884045 Sep 08, 2015 (146)
21 ILLUMINA ss1917723733 Feb 12, 2016 (147)
22 WEILL_CORNELL_DGM ss1918112213 Feb 12, 2016 (147)
23 ILLUMINA ss1945986398 Feb 12, 2016 (147)
24 ILLUMINA ss1958247671 Feb 12, 2016 (147)
25 HUMAN_LONGEVITY ss2160377978 Dec 20, 2016 (150)
26 TOPMED ss2322558785 Dec 20, 2016 (150)
27 ILLUMINA ss2632483540 Nov 08, 2017 (151)
28 GNOMAD ss2731191520 Nov 08, 2017 (151)
29 GNOMAD ss2746239646 Nov 08, 2017 (151)
30 GNOMAD ss2752191196 Nov 08, 2017 (151)
31 AFFY ss2984847520 Nov 08, 2017 (151)
32 SWEGEN ss2986396484 Nov 08, 2017 (151)
33 ILLUMINA ss3021060951 Nov 08, 2017 (151)
34 TOPMED ss3069845253 Nov 08, 2017 (151)
35 ILLUMINA ss3626037226 Oct 11, 2018 (152)
36 ILLUMINA ss3626037227 Oct 11, 2018 (152)
37 ILLUMINA ss3630521534 Oct 11, 2018 (152)
38 ILLUMINA ss3634309686 Oct 11, 2018 (152)
39 ILLUMINA ss3640017050 Oct 11, 2018 (152)
40 ILLUMINA ss3644482248 Oct 11, 2018 (152)
41 ILLUMINA ss3651385456 Oct 11, 2018 (152)
42 ILLUMINA ss3653621251 Oct 11, 2018 (152)
43 EVA_DECODE ss3686258216 Jul 12, 2019 (153)
44 ILLUMINA ss3725001164 Jul 12, 2019 (153)
45 ILLUMINA ss3744340415 Jul 12, 2019 (153)
46 ILLUMINA ss3744610648 Jul 12, 2019 (153)
47 PAGE_CC ss3770789282 Jul 12, 2019 (153)
48 ILLUMINA ss3772112230 Jul 12, 2019 (153)
49 KHV_HUMAN_GENOMES ss3798907624 Jul 12, 2019 (153)
50 EVA ss3823568968 Apr 25, 2020 (154)
51 EVA ss3825555443 Apr 25, 2020 (154)
52 SGDP_PRJ ss3848316289 Apr 25, 2020 (154)
53 FSA-LAB ss3983919936 Apr 27, 2021 (155)
54 FSA-LAB ss3983919937 Apr 27, 2021 (155)
55 EVA ss3986103621 Apr 27, 2021 (155)
56 TOPMED ss4440701731 Apr 27, 2021 (155)
57 1000Genomes NC_000001.10 - 17928659 Oct 11, 2018 (152)
58 ExAC NC_000001.10 - 17928659 Oct 11, 2018 (152)
59 gnomAD - Genomes NC_000001.11 - 17602164 Apr 27, 2021 (155)
60 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 204134 (NC_000001.10:17928658:G:G 199731/200876, NC_000001.10:17928658:G:A 1145/200876)
Row 204135 (NC_000001.10:17928658:G:G 200874/200876, NC_000001.10:17928658:G:T 2/200876)

- Jul 12, 2019 (153)
61 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 204134 (NC_000001.10:17928658:G:G 199731/200876, NC_000001.10:17928658:G:A 1145/200876)
Row 204135 (NC_000001.10:17928658:G:G 200874/200876, NC_000001.10:17928658:G:T 2/200876)

- Jul 12, 2019 (153)
62 GO Exome Sequencing Project NC_000001.10 - 17928659 Oct 11, 2018 (152)
63 The PAGE Study NC_000001.11 - 17602164 Jul 12, 2019 (153)
64 Qatari NC_000001.10 - 17928659 Apr 25, 2020 (154)
65 SGDP_PRJ NC_000001.10 - 17928659 Apr 25, 2020 (154)
66 TopMed NC_000001.11 - 17602164 Apr 27, 2021 (155)
67 ALFA NC_000001.11 - 17602164 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss210477038, ss217405881, ss217411001, ss482155578 NC_000001.9:17801245:G:A NC_000001.11:17602163:G:A (self)
547833, 4533026, 27686, 154143, 333269, ss218259974, ss341939138, ss480885695, ss489724737, ss491287908, ss534003511, ss553843781, ss780806377, ss781342949, ss783488046, ss834703696, ss1067417125, ss1067702460, ss1289865382, ss1685350463, ss1751884045, ss1917723733, ss1918112213, ss1945986398, ss1958247671, ss2322558785, ss2632483540, ss2731191520, ss2746239646, ss2752191196, ss2984847520, ss2986396484, ss3021060951, ss3626037226, ss3626037227, ss3630521534, ss3634309686, ss3640017050, ss3644482248, ss3651385456, ss3653621251, ss3744340415, ss3744610648, ss3772112230, ss3823568968, ss3825555443, ss3848316289, ss3983919936, ss3983919937, ss3986103621 NC_000001.10:17928658:G:A NC_000001.11:17602163:G:A (self)
3838186, 10751, 2704443, 4308066, 1839646958, ss2160377978, ss3069845253, ss3686258216, ss3725001164, ss3770789282, ss3798907624, ss4440701731 NC_000001.11:17602163:G:A NC_000001.11:17602163:G:A (self)
ss2731191520 NC_000001.10:17928658:G:T NC_000001.11:17602163:G: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 rs114123617

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