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rs104894076

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894076(A;A)
Make rs104894076(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position74360308
GeneGDAP1
is asnp
is mentioned by
dbSNPrs104894076
ebirs104894076
HLIrs104894076
Exacrs104894076
Varsomers104894076
Maprs104894076
PheGenIrs104894076
hapmaprs104894076
1000 genomesrs104894076
hgdprs104894076
ensemblrs104894076
gopubmedrs104894076
geneviewrs104894076
scholarrs104894076
googlers104894076
pharmgkbrs104894076
gwascentralrs104894076
openSNPrs104894076
23andMers104894076
23andMe allrs104894076
SNP Nexus

SNPshotrs104894076
SNPdbers104894076
MSV3drs104894076
GWAS Ctlgrs104894076
Max Magnitude0
OMIM606598
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894076(A,T;A,T)
Alt rs104894076(A,T;A,T)
Reference rs104894076(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.75272543G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004412.2,