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rs1057516429

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516429(A;T)
Make rs1057516429(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position101403936
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs1057516429
dbSNP (classic)rs1057516429
ClinGenrs1057516429
ebirs1057516429
HLIrs1057516429
Exacrs1057516429
Gnomadrs1057516429
Varsomers1057516429
LitVarrs1057516429
Maprs1057516429
PheGenIrs1057516429
Biobankrs1057516429
1000 genomesrs1057516429
hgdprs1057516429
ensemblrs1057516429
geneviewrs1057516429
scholarrs1057516429
googlers1057516429
pharmgkbrs1057516429
gwascentralrs1057516429
openSNPrs1057516429
23andMers1057516429
23andMe allrs1057516429
SNPshotrs1057516429
SNPdbers1057516429
MSV3drs1057516429
GWAS Ctlgrs1057516429
Max Magnitude0
ClinVar
Risk rs1057516429(T;T)
Alt rs1057516429(T;T)
Reference Rs1057516429(A;A)
Significance Probable-Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100658924T>A
CLNSRC
CLNACC RCV000411879.1,