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rs606231298

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs606231298(-;-)
Make rs606231298(-;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position153797780
GeneSSR4
is asnp
is mentioned by
dbSNPrs606231298
dbSNP (classic)rs606231298
ClinGenrs606231298
ebirs606231298
HLIrs606231298
Exacrs606231298
Gnomadrs606231298
Varsomers606231298
LitVarrs606231298
Maprs606231298
PheGenIrs606231298
Biobankrs606231298
1000 genomesrs606231298
hgdprs606231298
ensemblrs606231298
geneviewrs606231298
scholarrs606231298
googlers606231298
pharmgkbrs606231298
gwascentralrs606231298
openSNPrs606231298
23andMers606231298
SNPshotrs606231298
SNPdbers606231298
MSV3drs606231298
GWAS Ctlgrs606231298
Merged fromRs797045179
Max Magnitude0
ClinVar
Risk rs606231298(-;-)
Alt rs606231298(-;-)
Reference Rs606231298(T;T)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1y
Variation info
Gene SSR4
CLNDBN Congenital disorder of glycosylation type 1y
Reversed 0
HGVS NC_000023.10:g.153063234delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000191048.3,