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rs104894842

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894842(A;A)
Make rs104894842(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101398079
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs104894842
ebirs104894842
HLIrs104894842
Exacrs104894842
Varsomers104894842
Maprs104894842
PheGenIrs104894842
hapmaprs104894842
1000 genomesrs104894842
hgdprs104894842
ensemblrs104894842
gopubmedrs104894842
geneviewrs104894842
scholarrs104894842
googlers104894842
pharmgkbrs104894842
gwascentralrs104894842
openSNPrs104894842
23andMers104894842
23andMe allrs104894842
SNP Nexus

SNPshotrs104894842
SNPdbers104894842
MSV3drs104894842
GWAS Ctlgrs104894842
Max Magnitude0
OMIM300644
Desc
Variant0029
Relatedalso
ClinVar
Risk rs104894842(A;A)
Alt rs104894842(A;A)
Reference rs104894842(G;G)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100653067C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011489.7,