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rs118203973

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118203973(G;T)
Make rs118203973(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position32625774
GeneFGD4
is asnp
is mentioned by
dbSNPrs118203973
ebirs118203973
HLIrs118203973
Exacrs118203973
Varsomers118203973
Maprs118203973
PheGenIrs118203973
hapmaprs118203973
1000 genomesrs118203973
hgdprs118203973
ensemblrs118203973
gopubmedrs118203973
geneviewrs118203973
scholarrs118203973
googlers118203973
pharmgkbrs118203973
gwascentralrs118203973
openSNPrs118203973
23andMers118203973
23andMe allrs118203973
SNP Nexus

SNPshotrs118203973
SNPdbers118203973
MSV3drs118203973
GWAS Ctlgrs118203973
Max Magnitude0
OMIM611104
Desc
Variant0004
Relatedalso
ClinVar
Risk rs118203973(T;T)
Alt rs118203973(T;T)
Reference rs118203973(G;G)
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.32778708G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001069.2,