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

rs1060500979

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060500979(-;-)
Make rs1060500979(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position74361978
GeneGDAP1
is asnp
is mentioned by
dbSNPrs1060500979
dbSNP (old)rs1060500979
ClinGenrs1060500979
ebirs1060500979
HLIrs1060500979
Exacrs1060500979
Gnomadrs1060500979
Varsomers1060500979
Maprs1060500979
PheGenIrs1060500979
Biobankrs1060500979
1000 genomesrs1060500979
hgdprs1060500979
ensemblrs1060500979
gopubmedrs1060500979
geneviewrs1060500979
scholarrs1060500979
googlers1060500979
pharmgkbrs1060500979
gwascentralrs1060500979
openSNPrs1060500979
23andMers1060500979
23andMe allrs1060500979
SNPshotrs1060500979
SNPdbers1060500979
MSV3drs1060500979
GWAS Ctlgrs1060500979
Max Magnitude0
ClinVar
Risk rs1060500979(-;-)
Alt rs1060500979(-;-)
Reference Rs1060500979(A;A)
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.75274213delA
CLNSRC
CLNACC RCV000466389.1,