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rs797045179

From SNPedia

Merged intors606231298
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045179(-;-)
Make rs797045179(-;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position153797779
GeneSSR4
is asnp
is mentioned by
dbSNPrs797045179
dbSNP (classic)rs797045179
ClinGenrs797045179
ebirs797045179
HLIrs797045179
Exacrs797045179
Gnomadrs797045179
Varsomers797045179
LitVarrs797045179
Maprs797045179
PheGenIrs797045179
Biobankrs797045179
1000 genomesrs797045179
hgdprs797045179
ensemblrs797045179
geneviewrs797045179
scholarrs797045179
googlers797045179
pharmgkbrs797045179
gwascentralrs797045179
openSNPrs797045179
23andMers797045179
SNPshotrs797045179
SNPdbers797045179
MSV3drs797045179
GWAS Ctlgrs797045179
StatusMerged into rs606231298
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs797045179(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 RCV000191048.2,