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rs104894080

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894080(C;T)
Make rs104894080(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position74364005
GeneGDAP1
is asnp
is mentioned by
dbSNPrs104894080
ebirs104894080
HLIrs104894080
Exacrs104894080
Varsomers104894080
Maprs104894080
PheGenIrs104894080
hapmaprs104894080
1000 genomesrs104894080
hgdprs104894080
ensemblrs104894080
gopubmedrs104894080
geneviewrs104894080
scholarrs104894080
googlers104894080
pharmgkbrs104894080
gwascentralrs104894080
openSNPrs104894080
23andMers104894080
23andMe allrs104894080
SNP Nexus

SNPshotrs104894080
SNPdbers104894080
MSV3drs104894080
GWAS Ctlgrs104894080
Max Magnitude0
OMIM606598
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104894080(T;T)
Alt rs104894080(T;T)
Reference rs104894080(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, recessive intermediate A Charcot-Marie-Tooth disease type 2K Charcot-Marie-Tooth disease, type 4A
Reversed 0
HGVS NC_000008.10:g.75276240C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004420.2, RCV000033147.2, RCV000034153.2,