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rs104894075

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894075(C;G)
Make rs104894075(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position74362940
GeneGDAP1
is asnp
is mentioned by
dbSNPrs104894075
ebirs104894075
HLIrs104894075
Exacrs104894075
Varsomers104894075
Maprs104894075
PheGenIrs104894075
hapmaprs104894075
1000 genomesrs104894075
hgdprs104894075
ensemblrs104894075
gopubmedrs104894075
geneviewrs104894075
scholarrs104894075
googlers104894075
pharmgkbrs104894075
gwascentralrs104894075
openSNPrs104894075
23andMers104894075
23andMe allrs104894075
SNP Nexus

SNPshotrs104894075
SNPdbers104894075
MSV3drs104894075
GWAS Ctlgrs104894075
Max Magnitude0
OMIM606598
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894075(G;G)
Alt rs104894075(G;G)
Reference rs104894075(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2K Charcot-Marie-Tooth disease
Variation info
Gene GDAP1
CLNDBN Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4a Charcot-Marie-Tooth disease type 2K Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Reversed 0
HGVS NC_000008.10:g.75275175C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004410.2, RCV000004411.2, RCV000023562.2,