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rs397515443

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515443(C;T)
Make rs397515443(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position74364111
GeneGDAP1
is asnp
is mentioned by
dbSNPrs397515443
ebirs397515443
HLIrs397515443
Exacrs397515443
Varsomers397515443
Maprs397515443
PheGenIrs397515443
hapmaprs397515443
1000 genomesrs397515443
hgdprs397515443
ensemblrs397515443
gopubmedrs397515443
geneviewrs397515443
scholarrs397515443
googlers397515443
pharmgkbrs397515443
gwascentralrs397515443
openSNPrs397515443
23andMers397515443
23andMe allrs397515443
SNP Nexus

SNPshotrs397515443
SNPdbers397515443
MSV3drs397515443
GWAS Ctlgrs397515443
Max Magnitude0
ClinVar
Risk rs397515443(T;T)
Alt rs397515443(T;T)
Reference rs397515443(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2K
Variation info
Gene GDAP1
CLNDBN Charcot-Marie-Tooth disease type 2K
Reversed 0
HGVS NC_000008.10:g.75276346C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000043550.2,