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rs397515432

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515432(A;A)
Make rs397515432(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position74364270
GeneGDAP1
is asnp
is mentioned by
dbSNPrs397515432
ebirs397515432
HLIrs397515432
Exacrs397515432
Varsomers397515432
Maprs397515432
PheGenIrs397515432
hapmaprs397515432
1000 genomesrs397515432
hgdprs397515432
ensemblrs397515432
gopubmedrs397515432
geneviewrs397515432
scholarrs397515432
googlers397515432
pharmgkbrs397515432
gwascentralrs397515432
openSNPrs397515432
23andMers397515432
23andMe allrs397515432
SNP Nexus

SNPshotrs397515432
SNPdbers397515432
MSV3drs397515432
GWAS Ctlgrs397515432
Max Magnitude0
ClinVar
Risk rs397515432(A;A)
Alt rs397515432(A;A)
Reference rs397515432(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene GDAP1
CLNDBN Charcot-Marie-Tooth disease, recessive intermediate A
Reversed 0
HGVS NC_000008.10:g.75276505G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033148.3,