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rs397515323

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515323(A;A)
Make rs397515323(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position24503479
GenePDK3
is asnp
is mentioned by
dbSNPrs397515323
ebirs397515323
HLIrs397515323
Exacrs397515323
Varsomers397515323
Maprs397515323
PheGenIrs397515323
hapmaprs397515323
1000 genomesrs397515323
hgdprs397515323
ensemblrs397515323
gopubmedrs397515323
geneviewrs397515323
scholarrs397515323
googlers397515323
pharmgkbrs397515323
gwascentralrs397515323
openSNPrs397515323
23andMers397515323
23andMe allrs397515323
SNP Nexus

SNPshotrs397515323
SNPdbers397515323
MSV3drs397515323
GWAS Ctlgrs397515323
Max Magnitude0
ClinVar
Risk rs397515323(A;A)
Alt rs397515323(A;A)
Reference rs397515323(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene PDK3
CLNDBN Charcot-Marie-Tooth disease, X-linked dominant, 6
Reversed 0
HGVS NC_000023.10:g.24521596G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000054495.4,