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rs727503948

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503948(A;A)
Make rs727503948(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position101398856
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs727503948
ebirs727503948
HLIrs727503948
Exacrs727503948
Varsomers727503948
Maprs727503948
PheGenIrs727503948
hapmaprs727503948
1000 genomesrs727503948
hgdprs727503948
ensemblrs727503948
gopubmedrs727503948
geneviewrs727503948
scholarrs727503948
googlers727503948
pharmgkbrs727503948
gwascentralrs727503948
openSNPrs727503948
23andMers727503948
23andMe allrs727503948
SNP Nexus

SNPshotrs727503948
SNPdbers727503948
MSV3drs727503948
GWAS Ctlgrs727503948
Max Magnitude0
ClinVar
Risk rs727503948(A;A)
Alt rs727503948(A;A)
Reference rs727503948(G;G)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100653844C>T
CLNSRC HGMD
CLNACC RCV000153319.3,