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

rs121908113

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908113(C;G)
Make rs121908113(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position74363011
GeneGDAP1
is asnp
is mentioned by
dbSNPrs121908113
ebirs121908113
HLIrs121908113
Exacrs121908113
Varsomers121908113
Maprs121908113
PheGenIrs121908113
hapmaprs121908113
1000 genomesrs121908113
hgdprs121908113
ensemblrs121908113
gopubmedrs121908113
geneviewrs121908113
scholarrs121908113
googlers121908113
pharmgkbrs121908113
gwascentralrs121908113
openSNPrs121908113
23andMers121908113
23andMe allrs121908113
SNP Nexus

SNPshotrs121908113
SNPdbers121908113
MSV3drs121908113
GWAS Ctlgrs121908113
Max Magnitude0
OMIM606598
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121908113(G;G)
Alt rs121908113(G;G)
Reference rs121908113(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2K
Variation info
Gene GDAP1
CLNDBN Charcot-Marie-Tooth disease type 2K
Reversed 0
HGVS NC_000008.10:g.75275246C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004421.2,