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rs104894078

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894078(C;T)
Make rs104894078(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position74360184
GeneGDAP1
is asnp
is mentioned by
dbSNPrs104894078
ebirs104894078
HLIrs104894078
Exacrs104894078
Varsomers104894078
Maprs104894078
PheGenIrs104894078
hapmaprs104894078
1000 genomesrs104894078
hgdprs104894078
ensemblrs104894078
gopubmedrs104894078
geneviewrs104894078
scholarrs104894078
googlers104894078
pharmgkbrs104894078
gwascentralrs104894078
openSNPrs104894078
23andMers104894078
23andMe allrs104894078
SNP Nexus

SNPshotrs104894078
SNPdbers104894078
MSV3drs104894078
GWAS Ctlgrs104894078
Max Magnitude0
OMIM606598
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894078(T;T)
Alt rs104894078(T;T)
Reference rs104894078(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2K Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease not provided
Variation info
Gene GDAP1
CLNDBN Charcot-Marie-Tooth disease type 2K Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type 4A not provided
Reversed 0
HGVS NC_000008.10:g.75272419C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004418.4, RCV000192249.1, RCV000200521.2, RCV000236074.1,