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rs797044769

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs797044769(AATC;AATC)
Make rs797044769(AATC;TT)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position101398489
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs797044769
dbSNP (old)rs797044769
ClinGenrs797044769
ebirs797044769
HLIrs797044769
Exacrs797044769
Varsomers797044769
Maprs797044769
PheGenIrs797044769
Biobankrs797044769
1000 genomesrs797044769
hgdprs797044769
ensemblrs797044769
gopubmedrs797044769
geneviewrs797044769
scholarrs797044769
googlers797044769
pharmgkbrs797044769
gwascentralrs797044769
openSNPrs797044769
23andMers797044769
23andMe allrs797044769
SNP Nexus

SNPshotrs797044769
SNPdbers797044769
MSV3drs797044769
GWAS Ctlgrs797044769
Max Magnitude0
ClinVar
Risk rs797044769(AATC;AATC)
Alt rs797044769(AATC;AATC)
Reference Rs797044769(TT;TT)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100653477_100653478delAAinsGATT
CLNSRC
CLNACC RCV000179269.1,