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rs730880453

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GAG;GAG) 0 common in clinvar
Make rs730880453(-;-)
Make rs730880453(-;GAG)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position101398025
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs730880453
dbSNP (classic)rs730880453
ClinGenrs730880453
ebirs730880453
HLIrs730880453
Exacrs730880453
Gnomadrs730880453
Varsomers730880453
LitVarrs730880453
Maprs730880453
PheGenIrs730880453
Biobankrs730880453
1000 genomesrs730880453
hgdprs730880453
ensemblrs730880453
geneviewrs730880453
scholarrs730880453
googlers730880453
pharmgkbrs730880453
gwascentralrs730880453
openSNPrs730880453
23andMers730880453
SNPshotrs730880453
SNPdbers730880453
MSV3drs730880453
GWAS Ctlgrs730880453
Max Magnitude0
ClinVar
Risk rs730880453(-;-)
Alt rs730880453(-;-)
Reference Rs730880453(GAG;GAG)
Significance Pathogenic
Disease not provided Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN not provided Fabry disease
Reversed 1
HGVS NC_000023.10:g.100653013_100653015delCTC
CLNSRC University of Rostock
CLNACC RCV000157903.2, RCV000342797.1,