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rs745663149

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs745663149(C;T)
Make rs745663149(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position74360199
GeneGDAP1
is asnp
is mentioned by
dbSNPrs745663149
dbSNP (classic)rs745663149
ClinGenrs745663149
ebirs745663149
HLIrs745663149
Exacrs745663149
Gnomadrs745663149
Varsomers745663149
LitVarrs745663149
Maprs745663149
PheGenIrs745663149
Biobankrs745663149
1000 genomesrs745663149
hgdprs745663149
ensemblrs745663149
geneviewrs745663149
scholarrs745663149
googlers745663149
pharmgkbrs745663149
gwascentralrs745663149
openSNPrs745663149
23andMers745663149
SNPshotrs745663149
SNPdbers745663149
MSV3drs745663149
GWAS Ctlgrs745663149
Max Magnitude0
ClinVar
Risk rs745663149(T;T)
Alt rs745663149(T;T)
Reference Rs745663149(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene GDAP1
CLNDBN Charcot-Marie-Tooth disease, type 4A
Reversed 0
HGVS NC_000008.10:g.75272434C>T
CLNSRC Quest Diagnostics
CLNACC RCV000201184.1,