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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.

rs55693639

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:17623067 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.034969 (9256/264690, TOPMED)
T=0.039725 (9982/251278, GnomAD_exome)
T=0.037560 (5269/140282, GnomAD) (+ 17 more)
T=0.040334 (4888/121188, ExAC)
T=0.05265 (2613/49632, ALFA)
T=0.03975 (517/13006, GO-ESP)
T=0.0132 (66/5008, 1000G)
T=0.0545 (244/4480, Estonian)
T=0.0454 (175/3854, ALSPAC)
T=0.0415 (154/3708, TWINSUK)
T=0.051 (51/998, GoNL)
T=0.065 (39/600, NorthernSweden)
T=0.037 (20/534, MGP)
T=0.030 (9/304, FINRISK)
T=0.046 (10/216, Qatari)
T=0.07 (3/40, GENOME_DK)
C=0.50 (17/34, SGDP_PRJ)
T=0.50 (17/34, SGDP_PRJ)
C=0.5 (3/6, Siberian)
T=0.5 (3/6, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ARHGEF10L : Synonymous 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.17623067C>T
GRCh37.p13 chr 1 NC_000001.10:g.17949562C>T
ARHGEF10L RefSeqGene NG_050860.1:g.107871C>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.975C>T F [TTC] > F [TTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 2 NP_001011722.2:p.Phe325= F (Phe) > F (Phe) Synonymous Variant
ARHGEF10L transcript variant 3 NM_001319837.1:c.975C>T F [TTC] > F [TTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 3 NP_001306766.1:p.Phe325= F (Phe) > F (Phe) Synonymous Variant
ARHGEF10L transcript variant 4 NM_001319838.1:c.426C>T F [TTC] > F [TTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 4 NP_001306767.1:p.Phe142= F (Phe) > F (Phe) Synonymous Variant
ARHGEF10L transcript variant 5 NM_001328124.1:c.426C>T F [TTC] > F [TTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 5 NP_001315053.1:p.Phe142= F (Phe) > F (Phe) Synonymous Variant
ARHGEF10L transcript variant 1 NM_018125.4:c.1092C>T F [TTC] > F [TTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 1 NP_060595.3:p.Phe364= F (Phe) > F (Phe) Synonymous Variant
ARHGEF10L transcript variant 6 NR_137287.2:n.1391C>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant 7 NR_137288.2:n.1271C>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X2 XM_005245923.2:c.987C>T F [TTC] > F [TTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_005245980.2:p.Phe329= F (Phe) > F (Phe) Synonymous Variant
ARHGEF10L transcript variant X1 XM_006710728.1:c.987C>T F [TTC] > F [TTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_006710791.1:p.Phe329= F (Phe) > F (Phe) Synonymous Variant
ARHGEF10L transcript variant X7 XM_006710729.1:c.984C>T F [TTC] > F [TTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710792.1:p.Phe328= F (Phe) > F (Phe) Synonymous Variant
ARHGEF10L transcript variant X6 XM_006710731.1:c.984C>T F [TTC] > F [TTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710794.1:p.Phe328= F (Phe) > F (Phe) Synonymous Variant
ARHGEF10L transcript variant X9 XM_005245925.2:c.975C>T F [TTC] > F [TTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X4 XP_005245982.2:p.Phe325= F (Phe) > F (Phe) Synonymous Variant
ARHGEF10L transcript variant X8 XM_011541691.2:c.978C>T F [TTC] > F [TTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X3 XP_011539993.1:p.Phe326= F (Phe) > F (Phe) Synonymous Variant
ARHGEF10L transcript variant X10 XM_011541692.2:c.987C>T F [TTC] > F [TTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X5 XP_011539994.1:p.Phe329= F (Phe) > F (Phe) Synonymous Variant
ARHGEF10L transcript variant X11 XM_011541693.2:c.978C>T F [TTC] > F [TTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X6 XP_011539995.1:p.Phe326= F (Phe) > F (Phe) Synonymous Variant
ARHGEF10L transcript variant X12 XM_017001617.1:c.975C>T F [TTC] > F [TTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X7 XP_016857106.1:p.Phe325= F (Phe) > F (Phe) Synonymous Variant
ARHGEF10L transcript variant X16 XM_017001618.1:c.381C>T F [TTC] > F [TTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X9 XP_016857107.1:p.Phe127= F (Phe) > F (Phe) Synonymous Variant
ARHGEF10L transcript variant X17 XM_017001619.1:c.987C>T F [TTC] > F [TTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X10 XP_016857108.1:p.Phe329= F (Phe) > F (Phe) Synonymous Variant
ARHGEF10L transcript variant X18 XM_017001620.1:c.987C>T F [TTC] > F [TTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X11 XP_016857109.1:p.Phe329= F (Phe) > F (Phe) Synonymous Variant
ARHGEF10L transcript variant X26 XM_017001621.1:c.1092C>T F [TTC] > F [TTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X12 XP_016857110.1:p.Phe364= F (Phe) > F (Phe) Synonymous Variant
ARHGEF10L transcript variant X27 XM_017001622.1:c.1092C>T F [TTC] > F [TTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X13 XP_016857111.1:p.Phe364= F (Phe) > F (Phe) Synonymous Variant
ARHGEF10L transcript variant X3 XM_024448059.1:c.987C>T F [TTC] > F [TTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303827.1:p.Phe329= F (Phe) > F (Phe) Synonymous Variant
ARHGEF10L transcript variant X4 XM_024448061.1:c.987C>T F [TTC] > F [TTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303829.1:p.Phe329= F (Phe) > F (Phe) Synonymous Variant
ARHGEF10L transcript variant X5 XM_024448062.1:c.987C>T F [TTC] > F [TTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303830.1:p.Phe329= F (Phe) > F (Phe) Synonymous Variant
ARHGEF10L transcript variant X15 XM_005245929.3:c.426C>T F [TTC] > F [TTT] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X8 XP_005245986.2:p.Phe142= F (Phe) > F (Phe) Synonymous Variant
ARHGEF10L transcript variant X14 XR_001737276.1:n.1117C>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X19 XR_001737277.1:n.1116C>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X20 XR_946688.2:n.1116C>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X21 XR_946689.2:n.1107C>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X22 XR_946690.2:n.1117C>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X24 XR_946691.2:n.1116C>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X13 XR_946686.3:n.1116C>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X23 XR_002956988.1:n.1116C>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X25 XR_002956989.1:n.1116C>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 49632 C=0.94735 T=0.05265
European Sub 37296 C=0.94404 T=0.05596
African Sub 3598 C=0.9839 T=0.0161
African Others Sub 122 C=0.992 T=0.008
African American Sub 3476 C=0.9836 T=0.0164
Asian Sub 172 C=1.000 T=0.000
East Asian Sub 114 C=1.000 T=0.000
Other Asian Sub 58 C=1.00 T=0.00
Latin American 1 Sub 506 C=0.964 T=0.036
Latin American 2 Sub 634 C=0.968 T=0.032
South Asian Sub 98 C=0.95 T=0.05
Other Sub 7328 C=0.9420 T=0.0580


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=0.965031 T=0.034969
gnomAD - Exomes Global Study-wide 251278 C=0.960275 T=0.039725
gnomAD - Exomes European Sub 135262 C=0.946644 T=0.053356
gnomAD - Exomes Asian Sub 49010 C=0.99012 T=0.00988
gnomAD - Exomes American Sub 34560 C=0.97610 T=0.02390
gnomAD - Exomes African Sub 16248 C=0.99138 T=0.00862
gnomAD - Exomes Ashkenazi Jewish Sub 10068 C=0.89978 T=0.10022
gnomAD - Exomes Other Sub 6130 C=0.9501 T=0.0499
gnomAD - Genomes Global Study-wide 140282 C=0.962440 T=0.037560
gnomAD - Genomes European Sub 75952 C=0.94786 T=0.05214
gnomAD - Genomes African Sub 42060 C=0.99094 T=0.00906
gnomAD - Genomes American Sub 13662 C=0.96099 T=0.03901
gnomAD - Genomes Ashkenazi Jewish Sub 3320 C=0.9042 T=0.0958
gnomAD - Genomes East Asian Sub 3134 C=0.9990 T=0.0010
gnomAD - Genomes Other Sub 2154 C=0.9656 T=0.0344
ExAC Global Study-wide 121188 C=0.959666 T=0.040334
ExAC Europe Sub 73208 C=0.94214 T=0.05786
ExAC Asian Sub 25156 C=0.98962 T=0.01038
ExAC American Sub 11556 C=0.97854 T=0.02146
ExAC African Sub 10366 C=0.99045 T=0.00955
ExAC Other Sub 902 C=0.951 T=0.049
GO Exome Sequencing Project Global Study-wide 13006 C=0.96025 T=0.03975
GO Exome Sequencing Project European American Sub 8600 C=0.9451 T=0.0549
GO Exome Sequencing Project African American Sub 4406 C=0.9898 T=0.0102
1000Genomes Global Study-wide 5008 C=0.9868 T=0.0132
1000Genomes African Sub 1322 C=0.9985 T=0.0015
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
1000Genomes Europe Sub 1006 C=0.9652 T=0.0348
1000Genomes South Asian Sub 978 C=0.990 T=0.010
1000Genomes American Sub 694 C=0.973 T=0.027
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9455 T=0.0545
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9546 T=0.0454
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9585 T=0.0415
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.949 T=0.051
Northern Sweden ACPOP Study-wide 600 C=0.935 T=0.065
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.963 T=0.037
FINRISK Finnish from FINRISK project Study-wide 304 C=0.970 T=0.030
Qatari Global Study-wide 216 C=0.954 T=0.046
The Danish reference pan genome Danish Study-wide 40 C=0.93 T=0.07
SGDP_PRJ Global Study-wide 34 C=0.50 T=0.50
Siberian Global Study-wide 6 C=0.5 T=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 C= T
GRCh38.p13 chr 1 NC_000001.11:g.17623067= NC_000001.11:g.17623067C>T
GRCh37.p13 chr 1 NC_000001.10:g.17949562= NC_000001.10:g.17949562C>T
ARHGEF10L RefSeqGene NG_050860.1:g.107871= NG_050860.1:g.107871C>T
ARHGEF10L transcript variant 1 NM_018125.4:c.1092= NM_018125.4:c.1092C>T
ARHGEF10L transcript variant 1 NM_018125.3:c.1092= NM_018125.3:c.1092C>T
ARHGEF10L transcript variant 6 NR_137287.2:n.1391= NR_137287.2:n.1391C>T
ARHGEF10L transcript variant 6 NR_137287.1:n.1254= NR_137287.1:n.1254C>T
ARHGEF10L transcript variant 7 NR_137288.2:n.1271= NR_137288.2:n.1271C>T
ARHGEF10L transcript variant 7 NR_137288.1:n.1134= NR_137288.1:n.1134C>T
ARHGEF10L transcript variant 2 NM_001011722.2:c.975= NM_001011722.2:c.975C>T
ARHGEF10L transcript variant 3 NM_001319837.1:c.975= NM_001319837.1:c.975C>T
ARHGEF10L transcript variant 5 NM_001328124.1:c.426= NM_001328124.1:c.426C>T
ARHGEF10L transcript variant 4 NM_001319838.1:c.426= NM_001319838.1:c.426C>T
ARHGEF10L transcript variant X15 XM_005245929.3:c.426= XM_005245929.3:c.426C>T
ARHGEF10L transcript variant X9 XM_005245929.1:c.426= XM_005245929.1:c.426C>T
ARHGEF10L transcript variant X13 XR_946686.3:n.1116= XR_946686.3:n.1116C>T
ARHGEF10L transcript variant X2 XM_005245923.2:c.987= XM_005245923.2:c.987C>T
ARHGEF10L transcript variant X3 XM_005245923.1:c.987= XM_005245923.1:c.987C>T
ARHGEF10L transcript variant X8 XM_011541691.2:c.978= XM_011541691.2:c.978C>T
ARHGEF10L transcript variant X10 XM_011541692.2:c.987= XM_011541692.2:c.987C>T
ARHGEF10L transcript variant X9 XM_005245925.2:c.975= XM_005245925.2:c.975C>T
ARHGEF10L transcript variant X5 XM_005245925.1:c.975= XM_005245925.1:c.975C>T
ARHGEF10L transcript variant X11 XM_011541693.2:c.978= XM_011541693.2:c.978C>T
ARHGEF10L transcript variant X22 XR_946690.2:n.1117= XR_946690.2:n.1117C>T
ARHGEF10L transcript variant X20 XR_946688.2:n.1116= XR_946688.2:n.1116C>T
ARHGEF10L transcript variant X21 XR_946689.2:n.1107= XR_946689.2:n.1107C>T
ARHGEF10L transcript variant X24 XR_946691.2:n.1116= XR_946691.2:n.1116C>T
ARHGEF10L transcript variant X17 XM_017001619.1:c.987= XM_017001619.1:c.987C>T
ARHGEF10L transcript variant X18 XM_017001620.1:c.987= XM_017001620.1:c.987C>T
ARHGEF10L transcript variant X23 XR_002956988.1:n.1116= XR_002956988.1:n.1116C>T
ARHGEF10L transcript variant X25 XR_002956989.1:n.1116= XR_002956989.1:n.1116C>T
ARHGEF10L transcript variant X1 XM_006710728.1:c.987= XM_006710728.1:c.987C>T
ARHGEF10L transcript variant X6 XM_006710731.1:c.984= XM_006710731.1:c.984C>T
ARHGEF10L transcript variant X26 XM_017001621.1:c.1092= XM_017001621.1:c.1092C>T
ARHGEF10L transcript variant X27 XM_017001622.1:c.1092= XM_017001622.1:c.1092C>T
ARHGEF10L transcript variant X3 XM_024448059.1:c.987= XM_024448059.1:c.987C>T
ARHGEF10L transcript variant X4 XM_024448061.1:c.987= XM_024448061.1:c.987C>T
ARHGEF10L transcript variant X7 XM_006710729.1:c.984= XM_006710729.1:c.984C>T
ARHGEF10L transcript variant X12 XM_017001617.1:c.975= XM_017001617.1:c.975C>T
ARHGEF10L transcript variant X5 XM_024448062.1:c.987= XM_024448062.1:c.987C>T
ARHGEF10L transcript variant X19 XR_001737277.1:n.1116= XR_001737277.1:n.1116C>T
ARHGEF10L transcript variant X14 XR_001737276.1:n.1117= XR_001737276.1:n.1117C>T
ARHGEF10L transcript variant X16 XM_017001618.1:c.381= XM_017001618.1:c.381C>T
rho guanine nucleotide exchange factor 10-like protein isoform 1 NP_060595.3:p.Phe364= NP_060595.3:p.Phe364=
rho guanine nucleotide exchange factor 10-like protein isoform 2 NP_001011722.2:p.Phe325= NP_001011722.2:p.Phe325=
rho guanine nucleotide exchange factor 10-like protein isoform 3 NP_001306766.1:p.Phe325= NP_001306766.1:p.Phe325=
rho guanine nucleotide exchange factor 10-like protein isoform 5 NP_001315053.1:p.Phe142= NP_001315053.1:p.Phe142=
rho guanine nucleotide exchange factor 10-like protein isoform 4 NP_001306767.1:p.Phe142= NP_001306767.1:p.Phe142=
rho guanine nucleotide exchange factor 10-like protein isoform X8 XP_005245986.2:p.Phe142= XP_005245986.2:p.Phe142=
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_005245980.2:p.Phe329= XP_005245980.2:p.Phe329=
rho guanine nucleotide exchange factor 10-like protein isoform X3 XP_011539993.1:p.Phe326= XP_011539993.1:p.Phe326=
rho guanine nucleotide exchange factor 10-like protein isoform X5 XP_011539994.1:p.Phe329= XP_011539994.1:p.Phe329=
rho guanine nucleotide exchange factor 10-like protein isoform X4 XP_005245982.2:p.Phe325= XP_005245982.2:p.Phe325=
rho guanine nucleotide exchange factor 10-like protein isoform X6 XP_011539995.1:p.Phe326= XP_011539995.1:p.Phe326=
rho guanine nucleotide exchange factor 10-like protein isoform X10 XP_016857108.1:p.Phe329= XP_016857108.1:p.Phe329=
rho guanine nucleotide exchange factor 10-like protein isoform X11 XP_016857109.1:p.Phe329= XP_016857109.1:p.Phe329=
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_006710791.1:p.Phe329= XP_006710791.1:p.Phe329=
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710794.1:p.Phe328= XP_006710794.1:p.Phe328=
rho guanine nucleotide exchange factor 10-like protein isoform X12 XP_016857110.1:p.Phe364= XP_016857110.1:p.Phe364=
rho guanine nucleotide exchange factor 10-like protein isoform X13 XP_016857111.1:p.Phe364= XP_016857111.1:p.Phe364=
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303827.1:p.Phe329= XP_024303827.1:p.Phe329=
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303829.1:p.Phe329= XP_024303829.1:p.Phe329=
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710792.1:p.Phe328= XP_006710792.1:p.Phe328=
rho guanine nucleotide exchange factor 10-like protein isoform X7 XP_016857106.1:p.Phe325= XP_016857106.1:p.Phe325=
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303830.1:p.Phe329= XP_024303830.1:p.Phe329=
rho guanine nucleotide exchange factor 10-like protein isoform X9 XP_016857107.1:p.Phe127= XP_016857107.1:p.Phe127=
Rho guanine nucleotide exchange factor (GEF) 10-like isoform X3 XP_005245980.1:p.Phe329= XP_005245980.1:p.Phe329=
Rho guanine nucleotide exchange factor (GEF) 10-like isoform X5 XP_005245982.1:p.Phe325= XP_005245982.1:p.Phe325=
Rho guanine nucleotide exchange factor (GEF) 10-like isoform X9 XP_005245986.1:p.Phe142= XP_005245986.1:p.Phe142=
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#.

48 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 SI_EXO ss76884336 Dec 06, 2007 (129)
2 CANCER-GENOME ss86341860 Mar 23, 2008 (130)
3 1000GENOMES ss217314430 Jul 14, 2010 (132)
4 1000GENOMES ss217410537 Jul 14, 2010 (132)
5 1000GENOMES ss328448558 May 09, 2011 (134)
6 NHLBI-ESP ss341939194 May 09, 2011 (134)
7 1000GENOMES ss489724787 May 04, 2012 (137)
8 CLINSEQ_SNP ss491587168 May 04, 2012 (137)
9 ILLUMINA ss533144078 Sep 08, 2015 (146)
10 EVA-GONL ss974902342 Aug 21, 2014 (142)
11 JMKIDD_LAB ss1067417139 Aug 21, 2014 (142)
12 JMKIDD_LAB ss1067702563 Aug 21, 2014 (142)
13 1000GENOMES ss1289866097 Aug 21, 2014 (142)
14 EVA_GENOME_DK ss1573914381 Apr 01, 2015 (144)
15 EVA_FINRISK ss1584005279 Apr 01, 2015 (144)
16 EVA_DECODE ss1584259519 Apr 01, 2015 (144)
17 EVA_UK10K_ALSPAC ss1599636062 Apr 01, 2015 (144)
18 EVA_UK10K_TWINSUK ss1642630095 Apr 01, 2015 (144)
19 EVA_EXAC ss1685350832 Apr 01, 2015 (144)
20 EVA_MGP ss1710892554 Apr 01, 2015 (144)
21 WEILL_CORNELL_DGM ss1918112388 Feb 12, 2016 (147)
22 JJLAB ss2019567538 Sep 14, 2016 (149)
23 USC_VALOUEV ss2147569884 Dec 20, 2016 (150)
24 HUMAN_LONGEVITY ss2160379460 Dec 20, 2016 (150)
25 TOPMED ss2322560233 Dec 20, 2016 (150)
26 GNOMAD ss2731192052 Nov 08, 2017 (151)
27 GNOMAD ss2746239829 Nov 08, 2017 (151)
28 GNOMAD ss2752192954 Nov 08, 2017 (151)
29 SWEGEN ss2986396709 Nov 08, 2017 (151)
30 TOPMED ss3069849099 Nov 08, 2017 (151)
31 CSHL ss3343345968 Nov 08, 2017 (151)
32 ILLUMINA ss3626037267 Oct 11, 2018 (152)
33 BIOINF_KMB_FNS_UNIBA ss3645029405 Oct 11, 2018 (152)
34 EGCUT_WGS ss3654465239 Jul 12, 2019 (153)
35 EVA_DECODE ss3686258519 Jul 12, 2019 (153)
36 ACPOP ss3726831721 Jul 12, 2019 (153)
37 KHV_HUMAN_GENOMES ss3798907818 Jul 12, 2019 (153)
38 EVA ss3823569053 Apr 25, 2020 (154)
39 EVA ss3825555465 Apr 25, 2020 (154)
40 EVA ss3826047678 Apr 25, 2020 (154)
41 EVA ss3836412009 Apr 25, 2020 (154)
42 EVA ss3841816315 Apr 25, 2020 (154)
43 SGDP_PRJ ss3848316587 Apr 25, 2020 (154)
44 FSA-LAB ss3983919967 Apr 27, 2021 (155)
45 EVA ss3986103666 Apr 27, 2021 (155)
46 TOPMED ss4440707212 Apr 27, 2021 (155)
47 EVA ss5236865341 Apr 27, 2021 (155)
48 EVA ss5237261034 Apr 27, 2021 (155)
49 1000Genomes NC_000001.10 - 17949562 Oct 11, 2018 (152)
50 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 17949562 Oct 11, 2018 (152)
51 Genetic variation in the Estonian population NC_000001.10 - 17949562 Oct 11, 2018 (152)
52 ExAC NC_000001.10 - 17949562 Oct 11, 2018 (152)
53 FINRISK NC_000001.10 - 17949562 Apr 25, 2020 (154)
54 The Danish reference pan genome NC_000001.10 - 17949562 Apr 25, 2020 (154)
55 gnomAD - Genomes NC_000001.11 - 17623067 Apr 27, 2021 (155)
56 gnomAD - Exomes NC_000001.10 - 17949562 Jul 12, 2019 (153)
57 GO Exome Sequencing Project NC_000001.10 - 17949562 Oct 11, 2018 (152)
58 Genome of the Netherlands Release 5 NC_000001.10 - 17949562 Apr 25, 2020 (154)
59 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 17949562 Apr 25, 2020 (154)
60 Northern Sweden NC_000001.10 - 17949562 Jul 12, 2019 (153)
61 Qatari NC_000001.10 - 17949562 Apr 25, 2020 (154)
62 SGDP_PRJ NC_000001.10 - 17949562 Apr 25, 2020 (154)
63 Siberian NC_000001.10 - 17949562 Apr 25, 2020 (154)
64 TopMed NC_000001.11 - 17623067 Apr 27, 2021 (155)
65 UK 10K study - Twins NC_000001.10 - 17949562 Oct 11, 2018 (152)
66 ALFA NC_000001.11 - 17623067 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)
rs61749344 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss217314430, ss217410537, ss491587168, ss1584259519 NC_000001.9:17822148:C:T NC_000001.11:17623066:C:T (self)
548564, 283814, 203487, 4533405, 1740, 1408234, 204616, 27771, 124104, 9306, 116586, 154318, 333567, 86238, 283814, ss328448558, ss341939194, ss489724787, ss533144078, ss974902342, ss1067417139, ss1067702563, ss1289866097, ss1573914381, ss1584005279, ss1599636062, ss1642630095, ss1685350832, ss1710892554, ss1918112388, ss2019567538, ss2147569884, ss2322560233, ss2731192052, ss2746239829, ss2752192954, ss2986396709, ss3343345968, ss3626037267, ss3654465239, ss3726831721, ss3823569053, ss3825555465, ss3826047678, ss3836412009, ss3848316587, ss3983919967, ss3986103666, ss5237261034 NC_000001.10:17949561:C:T NC_000001.11:17623066:C:T (self)
3842541, 2707900, 4313547, 5181771421, ss2160379460, ss3069849099, ss3645029405, ss3686258519, ss3798907818, ss3841816315, ss4440707212, ss5236865341 NC_000001.11:17623066:C:T NC_000001.11:17623066:C:T (self)
ss76884336 NT_004610.18:773903:C:T NC_000001.11:17623066:C:T (self)
ss86341860 NT_004610.19:4629649:C:T NC_000001.11:17623066: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 rs55693639

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