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rs104894844

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894844(G;T)
Make rs104894844(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101397907
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs104894844
ebirs104894844
HLIrs104894844
Exacrs104894844
Varsomers104894844
Maprs104894844
PheGenIrs104894844
hapmaprs104894844
1000 genomesrs104894844
hgdprs104894844
ensemblrs104894844
gopubmedrs104894844
geneviewrs104894844
scholarrs104894844
googlers104894844
pharmgkbrs104894844
gwascentralrs104894844
openSNPrs104894844
23andMers104894844
23andMe allrs104894844
SNP Nexus

SNPshotrs104894844
SNPdbers104894844
MSV3drs104894844
GWAS Ctlgrs104894844
Max Magnitude0
OMIM300644
Desc
Variant0033
Relatedalso
ClinVar
Risk rs104894844(T;T)
Alt rs104894844(T;T)
Reference rs104894844(G;G)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100652895C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011493.7,