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rs118203972

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203972(C;T)
Make rs118203972(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position32598566
GeneFGD4
is asnp
is mentioned by
dbSNPrs118203972
ebirs118203972
HLIrs118203972
Exacrs118203972
Varsomers118203972
Maprs118203972
PheGenIrs118203972
hapmaprs118203972
1000 genomesrs118203972
hgdprs118203972
ensemblrs118203972
gopubmedrs118203972
geneviewrs118203972
scholarrs118203972
googlers118203972
pharmgkbrs118203972
gwascentralrs118203972
openSNPrs118203972
23andMers118203972
23andMe allrs118203972
SNP Nexus

SNPshotrs118203972
SNPdbers118203972
MSV3drs118203972
GWAS Ctlgrs118203972
Max Magnitude0
OMIM611104
Desc
Variant0001
Relatedalso
ClinVar
Risk rs118203972(T;T)
Alt rs118203972(T;T)
Reference rs118203972(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.32751500C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001066.2,