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rs104894846

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894846(A;A)
Make rs104894846(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101398481
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs104894846
ebirs104894846
HLIrs104894846
Exacrs104894846
Varsomers104894846
Maprs104894846
PheGenIrs104894846
hapmaprs104894846
1000 genomesrs104894846
hgdprs104894846
ensemblrs104894846
gopubmedrs104894846
geneviewrs104894846
scholarrs104894846
googlers104894846
pharmgkbrs104894846
gwascentralrs104894846
openSNPrs104894846
23andMers104894846
23andMe allrs104894846
SNP Nexus

SNPshotrs104894846
SNPdbers104894846
MSV3drs104894846
GWAS Ctlgrs104894846
Max Magnitude0
OMIM300644
Desc
Variant0051
Relatedalso
ClinVar
Risk rs104894846(A;A)
Alt rs104894846(A;A)
Reference rs104894846(G;G)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease, cardiac variant
Reversed 1
HGVS NC_000023.10:g.100653469C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011510.2,