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rs121908112

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908112(A;A)
Make rs121908112(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position74350553
GeneGDAP1
is asnp
is mentioned by
dbSNPrs121908112
ebirs121908112
HLIrs121908112
Exacrs121908112
Varsomers121908112
Maprs121908112
PheGenIrs121908112
hapmaprs121908112
1000 genomesrs121908112
hgdprs121908112
ensemblrs121908112
gopubmedrs121908112
geneviewrs121908112
scholarrs121908112
googlers121908112
pharmgkbrs121908112
gwascentralrs121908112
openSNPrs121908112
23andMers121908112
23andMe allrs121908112
SNP Nexus

SNPshotrs121908112
SNPdbers121908112
MSV3drs121908112
GWAS Ctlgrs121908112
Max Magnitude0
OMIM606598
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908112(A;A)
Alt rs121908112(A;A)
Reference rs121908112(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene GDAP1
CLNDBN Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4a
Reversed 0
HGVS NC_000008.10:g.75262788G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004409.2,