Rs104894830

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Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894830(A;G)
Make rs104894830(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101398483
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs104894830
Exacrs104894830
PheGenIrs104894830
nextbiors104894830
hapmaprs104894830
1000 genomesrs104894830
hgdprs104894830
ensemblrs104894830
gopubmedrs104894830
geneviewrs104894830
scholarrs104894830
googlers104894830
pharmgkbrs104894830
gwascentralrs104894830
openSNPrs104894830
23andMers104894830
23andMe allrs104894830
SNP Nexus

SNPshotrs104894830
SNPdbers104894830
MSV3drs104894830
OMIM300644
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894830(G;G)
Alt rs104894830(G;G)
Reference rs104894830(A;A)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease, cardiac variant
Reversed 1
HGVS NC_000023.10:g.100653471T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011464.4,