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rs281865060

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281865060(G;G)
Make rs281865060(G;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position74360173
GeneGDAP1
is asnp
is mentioned by
dbSNPrs281865060
ebirs281865060
HLIrs281865060
Exacrs281865060
Varsomers281865060
Maprs281865060
PheGenIrs281865060
hapmaprs281865060
1000 genomesrs281865060
hgdprs281865060
ensemblrs281865060
gopubmedrs281865060
geneviewrs281865060
scholarrs281865060
googlers281865060
pharmgkbrs281865060
gwascentralrs281865060
openSNPrs281865060
23andMers281865060
23andMe allrs281865060
SNP Nexus

SNPshotrs281865060
SNPdbers281865060
MSV3drs281865060
GWAS Ctlgrs281865060
Max Magnitude0
ClinVar
Risk rs281865060(G;G)
Alt rs281865060(G;G)
Reference rs281865060(T;T)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2K Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease
Variation info
Gene GDAP1
CLNDBN Charcot-Marie-Tooth disease type 2K Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease, recessive intermediate A Charcot-Marie-Tooth disease, type 4A
Reversed 0
HGVS NC_000008.10:g.75272408T>C; NC_000008.10:g.75272408T>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000196703.1, RCV000031962.1,