Rs104894831

From SNPedia
Jump to: navigation, search

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894831(C;T)
Make rs104894831(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101407786
GeneGLA, HNRNPH2
is asnp
is mentioned by
dbSNPrs104894831
PheGenIrs104894831
nextbiors104894831
hapmaprs104894831
1000 genomesrs104894831
hgdprs104894831
ensemblrs104894831
gopubmedrs104894831
geneviewrs104894831
scholarrs104894831
googlers104894831
pharmgkbrs104894831
gwascentralrs104894831
openSNPrs104894831
23andMers104894831
23andMe allrs104894831
SNP Nexus

SNPshotrs104894831
SNPdbers104894831
MSV3drs104894831
Max Magnitude0
OMIM300644
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894831(T;T)
Alt rs104894831(T;T)
Reference rs104894831(C;C)
Significance Pathogenic
Disease Fabry's disease
Variation info
Gene RPL36A-HNRNPH2 HNRNPH2 GLA
CLNDBN Fabry's disease
Reversed 1
HGVS NC_000023.10:g.100662774G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011466.6,