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rs28935492

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 1 Likely miscall in LivingDNA data
(G;G) 0 common in clinvar
Make rs28935492(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101398386
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs28935492
dbSNP (classic)rs28935492
ClinGenrs28935492
ebirs28935492
HLIrs28935492
Exacrs28935492
Gnomadrs28935492
Varsomers28935492
LitVarrs28935492
Maprs28935492
PheGenIrs28935492
Biobankrs28935492
1000 genomesrs28935492
hgdprs28935492
ensemblrs28935492
geneviewrs28935492
scholarrs28935492
googlers28935492
pharmgkbrs28935492
gwascentralrs28935492
openSNPrs28935492
23andMers28935492
SNPshotrs28935492
SNPdbers28935492
MSV3drs28935492
GWAS Ctlgrs28935492
Max Magnitude1
OMIM300644
Desc
Variant0028
Relatedalso


ClinVar
Risk Rs28935492(C;C)
Alt Rs28935492(C;C)
Reference Rs28935492(G;G)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100653374C>G
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011488.9,