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rs104894079

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894079(A;C)
Make rs104894079(C;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position74360295
GeneGDAP1
is asnp
is mentioned by
dbSNPrs104894079
ebirs104894079
HLIrs104894079
Exacrs104894079
Varsomers104894079
Maprs104894079
PheGenIrs104894079
hapmaprs104894079
1000 genomesrs104894079
hgdprs104894079
ensemblrs104894079
gopubmedrs104894079
geneviewrs104894079
scholarrs104894079
googlers104894079
pharmgkbrs104894079
gwascentralrs104894079
openSNPrs104894079
23andMers104894079
23andMe allrs104894079
SNP Nexus

SNPshotrs104894079
SNPdbers104894079
MSV3drs104894079
GWAS Ctlgrs104894079
Max Magnitude0
OMIM606598
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104894079(C;C)
Alt rs104894079(C;C)
Reference rs104894079(A;A)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2K
Variation info
Gene GDAP1
CLNDBN Charcot-Marie-Tooth disease type 2K
Reversed 0
HGVS NC_000008.10:g.75272530A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004419.3,