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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.

rs776190344

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr13:111273825 (GRCh38.p14) 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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000019 (5/264690, TOPMED)
A=0.000004 (1/251438, GnomAD_exome)
A=0.000008 (1/121398, ExAC) (+ 1 more)
A=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ARHGEF7 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome

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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 10680 G=1.00000 A=0.00000
European Sub 6962 G=1.0000 A=0.0000
African Sub 2294 G=1.0000 A=0.0000
African Others Sub 84 G=1.00 A=0.00
African American Sub 2210 G=1.0000 A=0.0000
Asian Sub 108 G=1.000 A=0.000
East Asian Sub 84 G=1.00 A=0.00
Other Asian Sub 24 G=1.00 A=0.00
Latin American 1 Sub 146 G=1.000 A=0.000
Latin American 2 Sub 610 G=1.000 A=0.000
South Asian Sub 94 G=1.00 A=0.00
Other Sub 466 G=1.000 A=0.000


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=0.999981 A=0.000019
gnomAD - Exomes Global Study-wide 251438 G=0.999996 A=0.000004
gnomAD - Exomes European Sub 135366 G=1.000000 A=0.000000
gnomAD - Exomes Asian Sub 49010 G=1.00000 A=0.00000
gnomAD - Exomes American Sub 34590 G=0.99997 A=0.00003
gnomAD - Exomes African Sub 16256 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10078 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6138 G=1.0000 A=0.0000
ExAC Global Study-wide 121398 G=0.999992 A=0.000008
ExAC Europe Sub 73344 G=1.00000 A=0.00000
ExAC Asian Sub 25164 G=1.00000 A=0.00000
ExAC American Sub 11576 G=0.99991 A=0.00009
ExAC African Sub 10406 G=1.00000 A=0.00000
ExAC Other Sub 908 G=1.000 A=0.000
Allele Frequency Aggregator Total Global 10680 G=1.00000 A=0.00000
Allele Frequency Aggregator European Sub 6962 G=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 2294 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 A=0.000
Allele Frequency Aggregator Other Sub 466 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 108 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 94 G=1.00 A=0.00
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.p14 chr 13 NC_000013.11:g.111273825G>A
GRCh37.p13 chr 13 NC_000013.10:g.111926172G>A
Gene: ARHGEF7, Rho guanine nucleotide exchange factor 7 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ARHGEF7 transcript variant 7 NM_001320852.1:c.1085G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform e NP_001307781.1:p.Gly362Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant 2 NM_145735.3:c.1085G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform b NP_663788.1:p.Gly362Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant 4 NM_001113512.2:c.998G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform d NP_001106984.1:p.Gly333Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant 3 NM_001113511.2:c.1148G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform c NP_001106983.1:p.Gly383Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant 13 NM_001354047.1:c.869G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform j NP_001340976.1:p.Gly290Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant 14 NM_001354048.1:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform k NP_001340977.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant 22 NM_001354056.1:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform h NP_001340985.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant 25 NM_001354059.2:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform h NP_001340988.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant 27 NM_001354061.2:c.242G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform n NP_001340990.1:p.Gly81Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant 23 NM_001354057.2:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform h NP_001340986.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant 26 NM_001354060.2:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform h NP_001340989.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant 24 NM_001354058.2:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform h NP_001340987.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant 18 NM_001354052.2:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform a NP_001340981.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant 16 NM_001354050.2:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform k NP_001340979.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant 5 NM_001113513.2:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform a NP_001106985.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant 17 NM_001354051.2:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform k NP_001340980.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant 11 NM_001330598.2:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform h NP_001317527.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant 15 NM_001354049.2:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform k NP_001340978.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant 8 NM_001320853.2:c.839G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform f NP_001307782.1:p.Gly280Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant 19 NM_001354053.2:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform a NP_001340982.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant 1 NM_003899.5:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform a NP_003890.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant 10 NM_001330597.2:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform h NP_001317526.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant 9 NM_001320854.2:c.380G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform g NP_001307783.1:p.Gly127Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant 21 NM_001354055.2:c.380G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform m NP_001340984.1:p.Gly127Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant 6 NM_001320851.2:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform a NP_001307780.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant 20 NM_001354054.2:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform l NP_001340983.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant 12 NM_001354046.2:c.1085G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform i NP_001340975.1:p.Gly362Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X1 XM_047430722.1:c.1085G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X1 XP_047286678.1:p.Gly362Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X2 XM_047430723.1:c.998G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X2 XP_047286679.1:p.Gly333Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X3 XM_047430724.1:c.998G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X3 XP_047286680.1:p.Gly333Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X4 XM_006719956.4:c.1085G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X4 XP_006720019.1:p.Gly362Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X5 XM_047430725.1:c.902G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X5 XP_047286681.1:p.Gly301Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X6 XM_047430726.1:c.869G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X6 XP_047286682.1:p.Gly290Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X7 XM_047430727.1:c.839G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X7 XP_047286683.1:p.Gly280Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X8 XM_047430728.1:c.869G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X8 XP_047286684.1:p.Gly290Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X9 XM_047430729.1:c.998G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X9 XP_047286685.1:p.Gly333Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X10 XM_017020815.2:c.869G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X10 XP_016876304.1:p.Gly290Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X11 XM_047430730.1:c.902G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X11 XP_047286686.1:p.Gly301Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X12 XM_047430732.1:c.869G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X12 XP_047286688.1:p.Gly290Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X13 XM_047430733.1:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X13 XP_047286689.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X14 XM_047430734.1:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X13 XP_047286690.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X15 XM_047430735.1:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X13 XP_047286691.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X16 XM_047430736.1:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X13 XP_047286692.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X17 XM_047430737.1:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X13 XP_047286693.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X18 XM_047430738.1:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X13 XP_047286694.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X19 XM_047430739.1:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X13 XP_047286695.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X20 XM_047430740.1:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X13 XP_047286696.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X21 XM_047430741.1:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X14 XP_047286697.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X23 XM_047430742.1:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X15 XP_047286698.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X24 XM_017020822.2:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X15 XP_016876311.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X25 XM_047430743.1:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X16 XP_047286699.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X26 XM_047430744.1:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X16 XP_047286700.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X27 XM_047430745.1:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X16 XP_047286701.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X28 XM_047430746.1:c.203G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X17 XP_047286702.1:p.Gly68Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X29 XM_011521133.3:c.1085G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X18 XP_011519435.1:p.Gly362Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X30 XM_047430747.1:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X19 XP_047286703.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X31 XM_047430748.1:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X20 XP_047286704.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X32 XM_047430750.1:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X20 XP_047286706.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X33 XM_047430751.1:c.614G>A G [GGG] > E [GAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 7 isoform X20 XP_047286707.1:p.Gly205Glu G (Gly) > E (Glu) Missense Variant
ARHGEF7 transcript variant X22 XR_007063704.1:n.1993G>A 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
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
GRCh38.p14 chr 13 NC_000013.11:g.111273825= NC_000013.11:g.111273825G>A
GRCh37.p13 chr 13 NC_000013.10:g.111926172= NC_000013.10:g.111926172G>A
ARHGEF7 transcript variant 1 NM_003899.5:c.614= NM_003899.5:c.614G>A
ARHGEF7 transcript variant 1 NM_003899.4:c.614= NM_003899.4:c.614G>A
ARHGEF7 transcript variant 1 NM_003899.3:c.614= NM_003899.3:c.614G>A
ARHGEF7 transcript variant X4 XM_006719956.4:c.1085= XM_006719956.4:c.1085G>A
ARHGEF7 transcript variant X1 XM_006719956.3:c.1085= XM_006719956.3:c.1085G>A
ARHGEF7 transcript variant X5 XM_006719956.2:c.1085= XM_006719956.2:c.1085G>A
ARHGEF7 transcript variant X13 XM_006719956.1:c.1085= XM_006719956.1:c.1085G>A
ARHGEF7 transcript variant 2 NM_145735.3:c.1085= NM_145735.3:c.1085G>A
ARHGEF7 transcript variant 2 NM_145735.2:c.1085= NM_145735.2:c.1085G>A
ARHGEF7 transcript variant X29 XM_011521133.3:c.1085= XM_011521133.3:c.1085G>A
ARHGEF7 transcript variant X13 XM_011521133.2:c.1085= XM_011521133.2:c.1085G>A
ARHGEF7 transcript variant X19 XM_011521133.1:c.1085= XM_011521133.1:c.1085G>A
ARHGEF7 transcript variant 3 NM_001113511.2:c.1148= NM_001113511.2:c.1148G>A
ARHGEF7 transcript variant 3 NM_001113511.1:c.1148= NM_001113511.1:c.1148G>A
ARHGEF7 transcript variant 4 NM_001113512.2:c.998= NM_001113512.2:c.998G>A
ARHGEF7 transcript variant 4 NM_001113512.1:c.998= NM_001113512.1:c.998G>A
ARHGEF7 transcript variant X10 XM_017020815.2:c.869= XM_017020815.2:c.869G>A
ARHGEF7 transcript variant X3 XM_017020815.1:c.869= XM_017020815.1:c.869G>A
ARHGEF7 transcript variant 12 NM_001354046.2:c.1085= NM_001354046.2:c.1085G>A
ARHGEF7 transcript variant 12 NM_001354046.1:c.1085= NM_001354046.1:c.1085G>A
ARHGEF7 transcript variant 26 NM_001354060.2:c.614= NM_001354060.2:c.614G>A
ARHGEF7 transcript variant 26 NM_001354060.1:c.614= NM_001354060.1:c.614G>A
ARHGEF7 transcript variant 17 NM_001354051.2:c.614= NM_001354051.2:c.614G>A
ARHGEF7 transcript variant 17 NM_001354051.1:c.614= NM_001354051.1:c.614G>A
ARHGEF7 transcript variant 25 NM_001354059.2:c.614= NM_001354059.2:c.614G>A
ARHGEF7 transcript variant 25 NM_001354059.1:c.614= NM_001354059.1:c.614G>A
ARHGEF7 transcript variant 24 NM_001354058.2:c.614= NM_001354058.2:c.614G>A
ARHGEF7 transcript variant 24 NM_001354058.1:c.614= NM_001354058.1:c.614G>A
ARHGEF7 transcript variant 10 NM_001330597.2:c.614= NM_001330597.2:c.614G>A
ARHGEF7 transcript variant 10 NM_001330597.1:c.614= NM_001330597.1:c.614G>A
ARHGEF7 transcript variant 15 NM_001354049.2:c.614= NM_001354049.2:c.614G>A
ARHGEF7 transcript variant 15 NM_001354049.1:c.614= NM_001354049.1:c.614G>A
ARHGEF7 transcript variant 23 NM_001354057.2:c.614= NM_001354057.2:c.614G>A
ARHGEF7 transcript variant 23 NM_001354057.1:c.614= NM_001354057.1:c.614G>A
ARHGEF7 transcript variant 16 NM_001354050.2:c.614= NM_001354050.2:c.614G>A
ARHGEF7 transcript variant 16 NM_001354050.1:c.614= NM_001354050.1:c.614G>A
ARHGEF7 transcript variant 5 NM_001113513.2:c.614= NM_001113513.2:c.614G>A
ARHGEF7 transcript variant 5 NM_001113513.1:c.614= NM_001113513.1:c.614G>A
ARHGEF7 transcript variant 20 NM_001354054.2:c.614= NM_001354054.2:c.614G>A
ARHGEF7 transcript variant 20 NM_001354054.1:c.614= NM_001354054.1:c.614G>A
ARHGEF7 transcript variant 18 NM_001354052.2:c.614= NM_001354052.2:c.614G>A
ARHGEF7 transcript variant 18 NM_001354052.1:c.614= NM_001354052.1:c.614G>A
ARHGEF7 transcript variant 11 NM_001330598.2:c.614= NM_001330598.2:c.614G>A
ARHGEF7 transcript variant 11 NM_001330598.1:c.614= NM_001330598.1:c.614G>A
ARHGEF7 transcript variant 8 NM_001320853.2:c.839= NM_001320853.2:c.839G>A
ARHGEF7 transcript variant 8 NM_001320853.1:c.839= NM_001320853.1:c.839G>A
ARHGEF7 transcript variant X24 XM_017020822.2:c.614= XM_017020822.2:c.614G>A
ARHGEF7 transcript variant X9 XM_017020822.1:c.614= XM_017020822.1:c.614G>A
ARHGEF7 transcript variant 19 NM_001354053.2:c.614= NM_001354053.2:c.614G>A
ARHGEF7 transcript variant 19 NM_001354053.1:c.614= NM_001354053.1:c.614G>A
ARHGEF7 transcript variant 6 NM_001320851.2:c.614= NM_001320851.2:c.614G>A
ARHGEF7 transcript variant 6 NM_001320851.1:c.614= NM_001320851.1:c.614G>A
ARHGEF7 transcript variant 27 NM_001354061.2:c.242= NM_001354061.2:c.242G>A
ARHGEF7 transcript variant 27 NM_001354061.1:c.242= NM_001354061.1:c.242G>A
ARHGEF7 transcript variant 9 NM_001320854.2:c.380= NM_001320854.2:c.380G>A
ARHGEF7 transcript variant 9 NM_001320854.1:c.380= NM_001320854.1:c.380G>A
ARHGEF7 transcript variant 21 NM_001354055.2:c.380= NM_001354055.2:c.380G>A
ARHGEF7 transcript variant 21 NM_001354055.1:c.380= NM_001354055.1:c.380G>A
ARHGEF7 transcript variant X5 XM_047430725.1:c.902= XM_047430725.1:c.902G>A
ARHGEF7 transcript variant X11 XM_047430730.1:c.902= XM_047430730.1:c.902G>A
ARHGEF7 transcript variant X1 XM_047430722.1:c.1085= XM_047430722.1:c.1085G>A
ARHGEF7 transcript variant X2 XM_047430723.1:c.998= XM_047430723.1:c.998G>A
ARHGEF7 transcript variant X19 XM_047430739.1:c.614= XM_047430739.1:c.614G>A
ARHGEF7 transcript variant X3 XM_047430724.1:c.998= XM_047430724.1:c.998G>A
ARHGEF7 transcript variant 7 NM_001320852.1:c.1085= NM_001320852.1:c.1085G>A
ARHGEF7 transcript variant X6 XM_047430726.1:c.869= XM_047430726.1:c.869G>A
ARHGEF7 transcript variant X20 XM_047430740.1:c.614= XM_047430740.1:c.614G>A
ARHGEF7 transcript variant 13 NM_001354047.1:c.869= NM_001354047.1:c.869G>A
ARHGEF7 transcript variant X8 XM_047430728.1:c.869= XM_047430728.1:c.869G>A
ARHGEF7 transcript variant X9 XM_047430729.1:c.998= XM_047430729.1:c.998G>A
ARHGEF7 transcript variant X12 XM_047430732.1:c.869= XM_047430732.1:c.869G>A
ARHGEF7 transcript variant 14 NM_001354048.1:c.614= NM_001354048.1:c.614G>A
ARHGEF7 transcript variant 22 NM_001354056.1:c.614= NM_001354056.1:c.614G>A
ARHGEF7 transcript variant X14 XM_047430734.1:c.614= XM_047430734.1:c.614G>A
ARHGEF7 transcript variant X18 XM_047430738.1:c.614= XM_047430738.1:c.614G>A
ARHGEF7 transcript variant X13 XM_047430733.1:c.614= XM_047430733.1:c.614G>A
ARHGEF7 transcript variant X15 XM_047430735.1:c.614= XM_047430735.1:c.614G>A
ARHGEF7 transcript variant X7 XM_047430727.1:c.839= XM_047430727.1:c.839G>A
ARHGEF7 transcript variant X17 XM_047430737.1:c.614= XM_047430737.1:c.614G>A
ARHGEF7 transcript variant X23 XM_047430742.1:c.614= XM_047430742.1:c.614G>A
ARHGEF7 transcript variant X27 XM_047430745.1:c.614= XM_047430745.1:c.614G>A
ARHGEF7 transcript variant X16 XM_047430736.1:c.614= XM_047430736.1:c.614G>A
ARHGEF7 transcript variant X21 XM_047430741.1:c.614= XM_047430741.1:c.614G>A
ARHGEF7 transcript variant X26 XM_047430744.1:c.614= XM_047430744.1:c.614G>A
ARHGEF7 transcript variant X25 XM_047430743.1:c.614= XM_047430743.1:c.614G>A
ARHGEF7 transcript variant X28 XM_047430746.1:c.203= XM_047430746.1:c.203G>A
ARHGEF7 transcript variant X22 XR_007063704.1:n.1993= XR_007063704.1:n.1993G>A
ARHGEF7 transcript variant X30 XM_047430747.1:c.614= XM_047430747.1:c.614G>A
ARHGEF7 transcript variant X31 XM_047430748.1:c.614= XM_047430748.1:c.614G>A
ARHGEF7 transcript variant X32 XM_047430750.1:c.614= XM_047430750.1:c.614G>A
ARHGEF7 transcript variant X33 XM_047430751.1:c.614= XM_047430751.1:c.614G>A
rho guanine nucleotide exchange factor 7 isoform a NP_003890.1:p.Gly205= NP_003890.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform X4 XP_006720019.1:p.Gly362= XP_006720019.1:p.Gly362Glu
rho guanine nucleotide exchange factor 7 isoform b NP_663788.1:p.Gly362= NP_663788.1:p.Gly362Glu
rho guanine nucleotide exchange factor 7 isoform X18 XP_011519435.1:p.Gly362= XP_011519435.1:p.Gly362Glu
rho guanine nucleotide exchange factor 7 isoform c NP_001106983.1:p.Gly383= NP_001106983.1:p.Gly383Glu
rho guanine nucleotide exchange factor 7 isoform d NP_001106984.1:p.Gly333= NP_001106984.1:p.Gly333Glu
rho guanine nucleotide exchange factor 7 isoform X10 XP_016876304.1:p.Gly290= XP_016876304.1:p.Gly290Glu
rho guanine nucleotide exchange factor 7 isoform i NP_001340975.1:p.Gly362= NP_001340975.1:p.Gly362Glu
rho guanine nucleotide exchange factor 7 isoform h NP_001340989.1:p.Gly205= NP_001340989.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform k NP_001340980.1:p.Gly205= NP_001340980.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform h NP_001340988.1:p.Gly205= NP_001340988.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform h NP_001340987.1:p.Gly205= NP_001340987.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform h NP_001317526.1:p.Gly205= NP_001317526.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform k NP_001340978.1:p.Gly205= NP_001340978.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform h NP_001340986.1:p.Gly205= NP_001340986.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform k NP_001340979.1:p.Gly205= NP_001340979.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform a NP_001106985.1:p.Gly205= NP_001106985.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform l NP_001340983.1:p.Gly205= NP_001340983.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform a NP_001340981.1:p.Gly205= NP_001340981.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform h NP_001317527.1:p.Gly205= NP_001317527.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform f NP_001307782.1:p.Gly280= NP_001307782.1:p.Gly280Glu
rho guanine nucleotide exchange factor 7 isoform X15 XP_016876311.1:p.Gly205= XP_016876311.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform a NP_001340982.1:p.Gly205= NP_001340982.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform a NP_001307780.1:p.Gly205= NP_001307780.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform n NP_001340990.1:p.Gly81= NP_001340990.1:p.Gly81Glu
rho guanine nucleotide exchange factor 7 isoform g NP_001307783.1:p.Gly127= NP_001307783.1:p.Gly127Glu
rho guanine nucleotide exchange factor 7 isoform m NP_001340984.1:p.Gly127= NP_001340984.1:p.Gly127Glu
rho guanine nucleotide exchange factor 7 isoform X5 XP_047286681.1:p.Gly301= XP_047286681.1:p.Gly301Glu
rho guanine nucleotide exchange factor 7 isoform X11 XP_047286686.1:p.Gly301= XP_047286686.1:p.Gly301Glu
rho guanine nucleotide exchange factor 7 isoform X1 XP_047286678.1:p.Gly362= XP_047286678.1:p.Gly362Glu
rho guanine nucleotide exchange factor 7 isoform X2 XP_047286679.1:p.Gly333= XP_047286679.1:p.Gly333Glu
rho guanine nucleotide exchange factor 7 isoform X13 XP_047286695.1:p.Gly205= XP_047286695.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform X3 XP_047286680.1:p.Gly333= XP_047286680.1:p.Gly333Glu
rho guanine nucleotide exchange factor 7 isoform e NP_001307781.1:p.Gly362= NP_001307781.1:p.Gly362Glu
rho guanine nucleotide exchange factor 7 isoform X6 XP_047286682.1:p.Gly290= XP_047286682.1:p.Gly290Glu
rho guanine nucleotide exchange factor 7 isoform X13 XP_047286696.1:p.Gly205= XP_047286696.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform j NP_001340976.1:p.Gly290= NP_001340976.1:p.Gly290Glu
rho guanine nucleotide exchange factor 7 isoform X8 XP_047286684.1:p.Gly290= XP_047286684.1:p.Gly290Glu
rho guanine nucleotide exchange factor 7 isoform X9 XP_047286685.1:p.Gly333= XP_047286685.1:p.Gly333Glu
rho guanine nucleotide exchange factor 7 isoform X12 XP_047286688.1:p.Gly290= XP_047286688.1:p.Gly290Glu
rho guanine nucleotide exchange factor 7 isoform k NP_001340977.1:p.Gly205= NP_001340977.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform h NP_001340985.1:p.Gly205= NP_001340985.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform X13 XP_047286690.1:p.Gly205= XP_047286690.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform X13 XP_047286694.1:p.Gly205= XP_047286694.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform X13 XP_047286689.1:p.Gly205= XP_047286689.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform X13 XP_047286691.1:p.Gly205= XP_047286691.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform X7 XP_047286683.1:p.Gly280= XP_047286683.1:p.Gly280Glu
rho guanine nucleotide exchange factor 7 isoform X13 XP_047286693.1:p.Gly205= XP_047286693.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform X15 XP_047286698.1:p.Gly205= XP_047286698.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform X16 XP_047286701.1:p.Gly205= XP_047286701.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform X13 XP_047286692.1:p.Gly205= XP_047286692.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform X14 XP_047286697.1:p.Gly205= XP_047286697.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform X16 XP_047286700.1:p.Gly205= XP_047286700.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform X16 XP_047286699.1:p.Gly205= XP_047286699.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform X17 XP_047286702.1:p.Gly68= XP_047286702.1:p.Gly68Glu
rho guanine nucleotide exchange factor 7 isoform X19 XP_047286703.1:p.Gly205= XP_047286703.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform X20 XP_047286704.1:p.Gly205= XP_047286704.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform X20 XP_047286706.1:p.Gly205= XP_047286706.1:p.Gly205Glu
rho guanine nucleotide exchange factor 7 isoform X20 XP_047286707.1:p.Gly205= XP_047286707.1:p.Gly205Glu
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#.

3 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1691356891 Apr 01, 2015 (144)
2 GNOMAD ss2740519018 Nov 08, 2017 (151)
3 TOPMED ss4961792584 Apr 27, 2021 (155)
4 ExAC NC_000013.10 - 111926172 Oct 12, 2018 (152)
5 gnomAD - Exomes NC_000013.10 - 111926172 Jul 13, 2019 (153)
6 TopMed NC_000013.11 - 111273825 Apr 27, 2021 (155)
7 ALFA NC_000013.11 - 111273825 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
1691783, 9766509, ss1691356891, ss2740519018 NC_000013.10:111926171:G:A NC_000013.11:111273824:G:A (self)
177338242, 12306356976, ss4961792584 NC_000013.11:111273824:G:A NC_000013.11:111273824:G:A (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 rs776190344

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.post761+d5e8e07