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rs104894828

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894828(A;A)
Make rs104894828(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101398467
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs104894828
dbSNP (classic)rs104894828
ClinGenrs104894828
ebirs104894828
HLIrs104894828
Exacrs104894828
Gnomadrs104894828
Varsomers104894828
LitVarrs104894828
Maprs104894828
PheGenIrs104894828
Biobankrs104894828
1000 genomesrs104894828
hgdprs104894828
ensemblrs104894828
geneviewrs104894828
scholarrs104894828
googlers104894828
pharmgkbrs104894828
gwascentralrs104894828
openSNPrs104894828
23andMers104894828
SNPshotrs104894828
SNPdbers104894828
MSV3drs104894828
GWAS Ctlgrs104894828
Max Magnitude0
OMIM300644
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894828(A;A) rs104894828(T;T)
Alt rs104894828(A;A) rs104894828(T;T)
Reference Rs104894828(G;G)
Significance Pathogenic
Disease Fabry disease Fabry disease Cardiovascular phenotype
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease, cardiac variant Fabry disease Cardiovascular phenotype
Reversed 1
HGVS NC_000023.10:g.100653455C>T
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011461.2, RCV000011462.7, RCV000244581.1,