Rs104894833

From SNPedia
Jump to: navigation, search

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894833(C;C)
Make rs104894833(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101403984
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs104894833
Exacrs104894833
PheGenIrs104894833
nextbiors104894833
hapmaprs104894833
1000 genomesrs104894833
hgdprs104894833
ensemblrs104894833
gopubmedrs104894833
geneviewrs104894833
scholarrs104894833
googlers104894833
pharmgkbrs104894833
gwascentralrs104894833
openSNPrs104894833
23andMers104894833
23andMe allrs104894833
SNP Nexus

SNPshotrs104894833
SNPdbers104894833
MSV3drs104894833
GMAF0.0
Max Magnitude0
OMIM300644
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104894833(C;C)
Alt rs104894833(C;C)
Reference rs104894833(G;G)
Significance Pathogenic
Disease Fabry's disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry's disease
Reversed 1
HGVS NC_000023.10:g.100658972C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011470.6,