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rs104894832

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894832(A;A)
Make rs104894832(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101398387
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs104894832
dbSNP (classic)rs104894832
ClinGenrs104894832
ebirs104894832
HLIrs104894832
Exacrs104894832
Gnomadrs104894832
Varsomers104894832
LitVarrs104894832
Maprs104894832
PheGenIrs104894832
Biobankrs104894832
1000 genomesrs104894832
hgdprs104894832
ensemblrs104894832
geneviewrs104894832
scholarrs104894832
googlers104894832
pharmgkbrs104894832
gwascentralrs104894832
openSNPrs104894832
23andMers104894832
SNPshotrs104894832
SNPdbers104894832
MSV3drs104894832
GWAS Ctlgrs104894832
Max Magnitude0
OMIM300644
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104894832(A;A) rs104894832(C;C)
Alt rs104894832(A;A) rs104894832(C;C)
Reference Rs104894832(G;G)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100653375C>G; NC_000023.10:g.100653375C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000179268.3, RCV000011469.5,