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rs118203974

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203974(C;T)
Make rs118203974(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position32601410
GeneFGD4
is asnp
is mentioned by
dbSNPrs118203974
ebirs118203974
HLIrs118203974
Exacrs118203974
Varsomers118203974
Maprs118203974
PheGenIrs118203974
hapmaprs118203974
1000 genomesrs118203974
hgdprs118203974
ensemblrs118203974
gopubmedrs118203974
geneviewrs118203974
scholarrs118203974
googlers118203974
pharmgkbrs118203974
gwascentralrs118203974
openSNPrs118203974
23andMers118203974
23andMe allrs118203974
SNP Nexus

SNPshotrs118203974
SNPdbers118203974
MSV3drs118203974
GWAS Ctlgrs118203974
Max Magnitude0
OMIM611104
Desc
Variant0006
Relatedalso
ClinVar
Risk rs118203974(T;T)
Alt rs118203974(T;T)
Reference rs118203974(C;C)
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.32754344C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001071.2,