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rs121908115

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908115(A;A)
Make rs121908115(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position74364009
GeneGDAP1
is asnp
is mentioned by
dbSNPrs121908115
ebirs121908115
HLIrs121908115
Exacrs121908115
Varsomers121908115
Maprs121908115
PheGenIrs121908115
hapmaprs121908115
1000 genomesrs121908115
hgdprs121908115
ensemblrs121908115
gopubmedrs121908115
geneviewrs121908115
scholarrs121908115
googlers121908115
pharmgkbrs121908115
gwascentralrs121908115
openSNPrs121908115
23andMers121908115
23andMe allrs121908115
SNP Nexus

SNPshotrs121908115
SNPdbers121908115
MSV3drs121908115
GWAS Ctlgrs121908115
Max Magnitude0
OMIM606598
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121908115(A;A)
Alt rs121908115(A;A)
Reference rs121908115(G;G)
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.75276244G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004423.2,