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rs9657362

From SNPedia

Orientationplus
Stabilizedplus
Make rs9657362(C;C)
Make rs9657362(C;G)
Make rs9657362(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position1885635
GeneARHGEF10
is asnp
is mentioned by
dbSNPrs9657362
ebirs9657362
HLIrs9657362
Exacrs9657362
Varsomers9657362
Maprs9657362
PheGenIrs9657362
hapmaprs9657362
1000 genomesrs9657362
hgdprs9657362
ensemblrs9657362
gopubmedrs9657362
geneviewrs9657362
scholarrs9657362
googlers9657362
pharmgkbrs9657362
gwascentralrs9657362
openSNPrs9657362
23andMers9657362
23andMe allrs9657362
SNP Nexus

SNPshotrs9657362
SNPdbers9657362
MSV3drs9657362
GWAS Ctlgrs9657362
GMAF0.1359
Max Magnitude
? (C;C) (C;G) (G;G) 28


Venter snp
Source plos
Gene ARHGEF10
allele C
frequency
sift TOLERATED
HuRef 1103652214412
Disease Association Defects in ARHGEF10 are the cause of slowed nerve conduction velocity (SNCV) (MIM:608236). Affected individuals present a reduction in nerve conduction velocities without any clinical signs of peripheral or central nervous system dysfunction. SNCV inheritance is autosomal dominant.



GET Evidence
ARHGEF10-L370F
aa_change Leu370Phe
aa_change_short L370F
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.10699
summary