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rs727503949

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727503949(C;T)
Make rs727503949(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position101398928
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs727503949
ebirs727503949
HLIrs727503949
Exacrs727503949
Varsomers727503949
Maprs727503949
PheGenIrs727503949
hapmaprs727503949
1000 genomesrs727503949
hgdprs727503949
ensemblrs727503949
gopubmedrs727503949
geneviewrs727503949
scholarrs727503949
googlers727503949
pharmgkbrs727503949
gwascentralrs727503949
openSNPrs727503949
23andMers727503949
23andMe allrs727503949
SNP Nexus

SNPshotrs727503949
SNPdbers727503949
MSV3drs727503949
GWAS Ctlgrs727503949
Max Magnitude0
ClinVar
Risk rs727503949(T;T)
Alt rs727503949(T;T)
Reference rs727503949(C;C)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100653916G>A
CLNSRC HGMD
CLNACC RCV000153320.5,