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rs104894837

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894837(C;T)
Make rs104894837(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101401743
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs104894837
dbSNP (classic)rs104894837
ClinGenrs104894837
ebirs104894837
HLIrs104894837
Exacrs104894837
Gnomadrs104894837
Varsomers104894837
LitVarrs104894837
Maprs104894837
PheGenIrs104894837
Biobankrs104894837
1000 genomesrs104894837
hgdprs104894837
ensemblrs104894837
geneviewrs104894837
scholarrs104894837
googlers104894837
pharmgkbrs104894837
gwascentralrs104894837
openSNPrs104894837
23andMers104894837
SNPshotrs104894837
SNPdbers104894837
MSV3drs104894837
GWAS Ctlgrs104894837
Max Magnitude0
OMIM300644
Desc
Variant0014
Relatedalso
ClinVar
Risk rs104894837(T;T)
Alt rs104894837(T;T)
Reference Rs104894837(C;C)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100656731G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011473.6,