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rs398123218

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs398123218(-;-)
Make rs398123218(-;AG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101398923
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs398123218
ebirs398123218
HLIrs398123218
Exacrs398123218
Varsomers398123218
Maprs398123218
PheGenIrs398123218
hapmaprs398123218
1000 genomesrs398123218
hgdprs398123218
ensemblrs398123218
gopubmedrs398123218
geneviewrs398123218
scholarrs398123218
googlers398123218
pharmgkbrs398123218
gwascentralrs398123218
openSNPrs398123218
23andMers398123218
23andMe allrs398123218
SNP Nexus

SNPshotrs398123218
SNPdbers398123218
MSV3drs398123218
GWAS Ctlgrs398123218
Max Magnitude0
ClinVar
Risk rs398123218(;)
Alt rs398123218(;)
Reference rs398123218(AG;AG)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100653911_100653912delCT
CLNSRC ClinVar
CLNACC RCV000078291.4,