Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894835

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894835(A;G)
Make rs104894835(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101407803
GeneGLA, HNRNPH2
is asnp
is mentioned by
dbSNPrs104894835
ebirs104894835
HLIrs104894835
Exacrs104894835
Varsomers104894835
Maprs104894835
PheGenIrs104894835
hapmaprs104894835
1000 genomesrs104894835
hgdprs104894835
ensemblrs104894835
gopubmedrs104894835
geneviewrs104894835
scholarrs104894835
googlers104894835
pharmgkbrs104894835
gwascentralrs104894835
openSNPrs104894835
23andMers104894835
23andMe allrs104894835
SNP Nexus

SNPshotrs104894835
SNPdbers104894835
MSV3drs104894835
GWAS Ctlgrs104894835
Max Magnitude0
OMIM300644
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104894835(G;G)
Alt rs104894835(G;G)
Reference rs104894835(A;A)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene HNRNPH2 RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100662791T>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000011471.6,