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rs1060500747

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500747(A;A)
Make rs1060500747(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position101398851
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs1060500747
dbSNP (old)rs1060500747
ClinGenrs1060500747
ebirs1060500747
HLIrs1060500747
Exacrs1060500747
Gnomadrs1060500747
Varsomers1060500747
LitVarrs1060500747
Maprs1060500747
PheGenIrs1060500747
Biobankrs1060500747
1000 genomesrs1060500747
hgdprs1060500747
ensemblrs1060500747
gopubmedrs1060500747
geneviewrs1060500747
scholarrs1060500747
googlers1060500747
pharmgkbrs1060500747
gwascentralrs1060500747
openSNPrs1060500747
23andMers1060500747
23andMe allrs1060500747
SNPshotrs1060500747
SNPdbers1060500747
MSV3drs1060500747
GWAS Ctlgrs1060500747
Max Magnitude0
ClinVar
Risk rs1060500747(A;A)
Alt rs1060500747(A;A)
Reference Rs1060500747(G;G)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100653839C>T
CLNSRC
CLNACC RCV000475829.1,