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rs398123229

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACAG;ACAG) 0 common in clinvar
Make rs398123229(-;-)
Make rs398123229(-;ACAG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101398370
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs398123229
ebirs398123229
HLIrs398123229
Exacrs398123229
Varsomers398123229
Maprs398123229
PheGenIrs398123229
hapmaprs398123229
1000 genomesrs398123229
hgdprs398123229
ensemblrs398123229
gopubmedrs398123229
geneviewrs398123229
scholarrs398123229
googlers398123229
pharmgkbrs398123229
gwascentralrs398123229
openSNPrs398123229
23andMers398123229
23andMe allrs398123229
SNP Nexus

SNPshotrs398123229
SNPdbers398123229
MSV3drs398123229
GWAS Ctlgrs398123229
Max Magnitude0
ClinVar
Risk rs398123229(;)
Alt rs398123229(;)
Reference rs398123229(ACAG;ACAG)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100653358_100653361delCTGT
CLNSRC HGMD
CLNACC RCV000078308.4,