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rs863224875

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863224875(-;-)
Make rs863224875(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position74350523
GeneGDAP1
is asnp
is mentioned by
dbSNPrs863224875
dbSNP (classic)rs863224875
ClinGenrs863224875
ebirs863224875
HLIrs863224875
Exacrs863224875
Gnomadrs863224875
Varsomers863224875
LitVarrs863224875
Maprs863224875
PheGenIrs863224875
Biobankrs863224875
1000 genomesrs863224875
hgdprs863224875
ensemblrs863224875
geneviewrs863224875
scholarrs863224875
googlers863224875
pharmgkbrs863224875
gwascentralrs863224875
openSNPrs863224875
23andMers863224875
SNPshotrs863224875
SNPdbers863224875
MSV3drs863224875
GWAS Ctlgrs863224875
Max Magnitude0
ClinVar
Risk rs863224875(-;-)
Alt rs863224875(-;-)
Reference Rs863224875(A;A)
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.75262758delA
CLNSRC
CLNACC RCV000196703.1,