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rs104894841

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894841(C;T)
Make rs104894841(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101398907
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs104894841
ebirs104894841
HLIrs104894841
Exacrs104894841
Varsomers104894841
Maprs104894841
PheGenIrs104894841
hapmaprs104894841
1000 genomesrs104894841
hgdprs104894841
ensemblrs104894841
gopubmedrs104894841
geneviewrs104894841
scholarrs104894841
googlers104894841
pharmgkbrs104894841
gwascentralrs104894841
openSNPrs104894841
23andMers104894841
23andMe allrs104894841
SNP Nexus

SNPshotrs104894841
SNPdbers104894841
MSV3drs104894841
GWAS Ctlgrs104894841
Max Magnitude0
OMIM300644
Desc
Variant0020
Relatedalso
ClinVar
Risk rs104894841(T;T)
Alt rs104894841(T;T)
Reference rs104894841(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.100653895G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000011479.9, RCV000157897.2,