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rs121908114

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908114(C;T)
Make rs121908114(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position74363051
GeneGDAP1
is asnp
is mentioned by
dbSNPrs121908114
ebirs121908114
HLIrs121908114
Exacrs121908114
Varsomers121908114
Maprs121908114
PheGenIrs121908114
hapmaprs121908114
1000 genomesrs121908114
hgdprs121908114
ensemblrs121908114
gopubmedrs121908114
geneviewrs121908114
scholarrs121908114
googlers121908114
pharmgkbrs121908114
gwascentralrs121908114
openSNPrs121908114
23andMers121908114
23andMe allrs121908114
SNP Nexus

SNPshotrs121908114
SNPdbers121908114
MSV3drs121908114
GWAS Ctlgrs121908114
Max Magnitude0
OMIM606598
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121908114(T;T)
Alt rs121908114(T;T)
Reference rs121908114(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2K not specified
Variation info
Gene GDAP1
CLNDBN Charcot-Marie-Tooth disease type 2K not specified
Reversed 0
HGVS NC_000008.10:g.75275286C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004422.2, RCV000214299.1,