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rs63749871

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs63749871(C;C)
Make rs63749871(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position32602217
GeneFGD4
is asnp
is mentioned by
dbSNPrs63749871
ebirs63749871
HLIrs63749871
Exacrs63749871
Varsomers63749871
Maprs63749871
PheGenIrs63749871
hapmaprs63749871
1000 genomesrs63749871
hgdprs63749871
ensemblrs63749871
gopubmedrs63749871
geneviewrs63749871
scholarrs63749871
googlers63749871
pharmgkbrs63749871
gwascentralrs63749871
openSNPrs63749871
23andMers63749871
23andMe allrs63749871
SNP Nexus

SNPshotrs63749871
SNPdbers63749871
MSV3drs63749871
GWAS Ctlgrs63749871
Max Magnitude0
OMIM611104
Desc
Variant0005
Relatedalso
ClinVar
Risk rs63749871(C;C) rs63749871(G;G)
Alt rs63749871(C;C) rs63749871(G;G)
Reference Rs63749871(T;T)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene FGD4
CLNDBN Charcot-Marie-Tooth disease, type 4H
Reversed 0
HGVS NC_000012.11:g.32755151T>C; NC_000012.11:g.32755151T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001070.2, RCV000032001.1,


[PMID 17564972OA-icon.png] Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.