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rs28935195

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28935195(A;A)
Make rs28935195(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101401713
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs28935195
dbSNP (classic)rs28935195
ClinGenrs28935195
ebirs28935195
HLIrs28935195
Exacrs28935195
Gnomadrs28935195
Varsomers28935195
LitVarrs28935195
Maprs28935195
PheGenIrs28935195
Biobankrs28935195
1000 genomesrs28935195
hgdprs28935195
ensemblrs28935195
geneviewrs28935195
scholarrs28935195
googlers28935195
pharmgkbrs28935195
gwascentralrs28935195
openSNPrs28935195
23andMers28935195
SNPshotrs28935195
SNPdbers28935195
MSV3drs28935195
GWAS Ctlgrs28935195
Max Magnitude0
OMIM300644
Desc
Variant0015
Relatedalso
ClinVar
Risk rs28935195(A;A)
Alt rs28935195(A;A)
Reference Rs28935195(G;G)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100656701C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011474.7,