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rs104894077

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894077(C;T)
Make rs104894077(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position74361886
GeneGDAP1
is asnp
is mentioned by
dbSNPrs104894077
ebirs104894077
HLIrs104894077
Exacrs104894077
Varsomers104894077
Maprs104894077
PheGenIrs104894077
hapmaprs104894077
1000 genomesrs104894077
hgdprs104894077
ensemblrs104894077
gopubmedrs104894077
geneviewrs104894077
scholarrs104894077
googlers104894077
pharmgkbrs104894077
gwascentralrs104894077
openSNPrs104894077
23andMers104894077
23andMe allrs104894077
SNP Nexus

SNPshotrs104894077
SNPdbers104894077
MSV3drs104894077
GWAS Ctlgrs104894077
GMAF0.0
Max Magnitude0
OMIM606598
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894077(T;T)
Alt rs104894077(T;T)
Reference rs104894077(C;C)
Significance Pathogenic
Disease Neuropathy Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease not provided
Variation info
Gene GDAP1
CLNDBN Neuropathy, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease, type 4A not provided
Reversed 0
HGVS NC_000008.10:g.75274121C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004413.2, RCV000031963.1, RCV000204463.1, RCV000236485.1,