Have questions? Visit https://www.reddit.com/r/SNPedia

rs139808557

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs139808557(A;A)
Make rs139808557(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position74360225
GeneGDAP1
is asnp
is mentioned by
dbSNPrs139808557
dbSNP (classic)rs139808557
ClinGenrs139808557
ebirs139808557
HLIrs139808557
Exacrs139808557
Gnomadrs139808557
Varsomers139808557
LitVarrs139808557
Maprs139808557
PheGenIrs139808557
Biobankrs139808557
1000 genomesrs139808557
hgdprs139808557
ensemblrs139808557
geneviewrs139808557
scholarrs139808557
googlers139808557
pharmgkbrs139808557
gwascentralrs139808557
openSNPrs139808557
23andMers139808557
SNPshotrs139808557
SNPdbers139808557
MSV3drs139808557
GWAS Ctlgrs139808557
Max Magnitude0
ClinVar
Risk rs139808557(A;A)
Alt rs139808557(A;A)
Reference Rs139808557(G;G)
Significance Probable-Pathogenic
Disease not specified Charcot-Marie-Tooth disease
Variation info
Gene GDAP1
CLNDBN not specified Charcot-Marie-Tooth disease, type 4A
Reversed 0
HGVS NC_000008.10:g.75272460G>A
CLNSRC
CLNACC RCV000236408.2, RCV000474009.1,