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rs398123197

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs398123197(-;A)
Make rs398123197(A;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101398079
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs398123197
dbSNP (classic)rs398123197
ClinGenrs398123197
ebirs398123197
HLIrs398123197
Exacrs398123197
Gnomadrs398123197
Varsomers398123197
LitVarrs398123197
Maprs398123197
PheGenIrs398123197
Biobankrs398123197
1000 genomesrs398123197
hgdprs398123197
ensemblrs398123197
geneviewrs398123197
scholarrs398123197
googlers398123197
pharmgkbrs398123197
gwascentralrs398123197
openSNPrs398123197
23andMers398123197
SNPshotrs398123197
SNPdbers398123197
MSV3drs398123197
GWAS Ctlgrs398123197
Max Magnitude0
ClinVar
Risk rs398123197(A;A)
Alt rs398123197(A;A)
Reference Rs398123197(-;-)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100653067_100653068insT
CLNSRC ClinVar
CLNACC RCV000078259.4,