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rs397515442

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397515442(A;G)
Make rs397515442(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position74360194
GeneGDAP1
is asnp
is mentioned by
dbSNPrs397515442
ebirs397515442
HLIrs397515442
Exacrs397515442
Varsomers397515442
Maprs397515442
PheGenIrs397515442
hapmaprs397515442
1000 genomesrs397515442
hgdprs397515442
ensemblrs397515442
gopubmedrs397515442
geneviewrs397515442
scholarrs397515442
googlers397515442
pharmgkbrs397515442
gwascentralrs397515442
openSNPrs397515442
23andMers397515442
23andMe allrs397515442
SNP Nexus

SNPshotrs397515442
SNPdbers397515442
MSV3drs397515442
GWAS Ctlgrs397515442
Max Magnitude0
ClinVar
Risk rs397515442(G;G)
Alt rs397515442(G;G)
Reference rs397515442(A;A)
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.75272429A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000043549.2,