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rs104894834

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a Fabry disease mutation; X-linked so risk is to sons
(T;T) 6 Fabry disease
ReferenceGRCh38 38.1/141
ChromosomeX
Position101403846
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs104894834
dbSNP (classic)rs104894834
ClinGenrs104894834
ebirs104894834
HLIrs104894834
Exacrs104894834
Gnomadrs104894834
Varsomers104894834
LitVarrs104894834
Maprs104894834
PheGenIrs104894834
Biobankrs104894834
1000 genomesrs104894834
hgdprs104894834
ensemblrs104894834
geneviewrs104894834
scholarrs104894834
googlers104894834
pharmgkbrs104894834
gwascentralrs104894834
openSNPrs104894834
23andMers104894834
SNPshotrs104894834
SNPdbers104894834
MSV3drs104894834
GWAS Ctlgrs104894834
Max Magnitude6
OMIM300644
Desc
Variant0011
Relatedalso
ClinVar
Risk Rs104894834(T;T)
Alt Rs104894834(T;T)
Reference Rs104894834(C;C)
Significance Pathogenic
Disease Fabry disease not provided
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease not provided
Reversed 1
HGVS NC_000023.10:g.100658834G>A
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011470.7, RCV000078275.6, RCV000482440.1,