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rs372966991

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs372966991(C;T)
Make rs372966991(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101403845
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs372966991
dbSNP (classic)rs372966991
ClinGenrs372966991
ebirs372966991
HLIrs372966991
Exacrs372966991
Gnomadrs372966991
Varsomers372966991
LitVarrs372966991
Maprs372966991
PheGenIrs372966991
Biobankrs372966991
1000 genomesrs372966991
hgdprs372966991
ensemblrs372966991
geneviewrs372966991
scholarrs372966991
googlers372966991
pharmgkbrs372966991
gwascentralrs372966991
openSNPrs372966991
23andMers372966991
SNPshotrs372966991
SNPdbers372966991
MSV3drs372966991
GWAS Ctlgrs372966991
Max Magnitude0
ClinVar
Risk rs372966991(A;A) rs372966991(T;T)
Alt rs372966991(A;A) rs372966991(T;T)
Reference Rs372966991(C;C)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 0
HGVS NC_000023.10:g.100658833C>A; NC_000023.10:g.100658833C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000078276.4, RCV000175540.4,