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rs730880454

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880454(-;-)
Make rs730880454(-;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position101407824
GeneGLA, HNRNPH2, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs730880454
dbSNP (classic)rs730880454
ClinGenrs730880454
ebirs730880454
HLIrs730880454
Exacrs730880454
Gnomadrs730880454
Varsomers730880454
LitVarrs730880454
Maprs730880454
PheGenIrs730880454
Biobankrs730880454
1000 genomesrs730880454
hgdprs730880454
ensemblrs730880454
geneviewrs730880454
scholarrs730880454
googlers730880454
pharmgkbrs730880454
gwascentralrs730880454
openSNPrs730880454
23andMers730880454
SNPshotrs730880454
SNPdbers730880454
MSV3drs730880454
GWAS Ctlgrs730880454
Max Magnitude0
ClinVar
Risk rs730880454(-;-)
Alt rs730880454(-;-)
Reference Rs730880454(C;C)
Significance Pathogenic
Disease not provided Fabry disease
Variation info
Gene HNRNPH2 RPL36A-HNRNPH2 GLA
CLNDBN not provided Fabry disease
Reversed 1
HGVS NC_000023.10:g.100662812delG
CLNSRC
CLNACC RCV000157904.1, RCV000173076.1,