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rs1057518719

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCGT;TCGT) 0 common in clinvar
Make rs1057518719(-;-)
Make rs1057518719(-;TCGT)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position48905289
GeneSLC35A2
is asnp
is mentioned by
dbSNPrs1057518719
dbSNP (old)rs1057518719
ClinGenrs1057518719
ebirs1057518719
HLIrs1057518719
Exacrs1057518719
Gnomadrs1057518719
Varsomers1057518719
Maprs1057518719
PheGenIrs1057518719
Biobankrs1057518719
1000 genomesrs1057518719
hgdprs1057518719
ensemblrs1057518719
gopubmedrs1057518719
geneviewrs1057518719
scholarrs1057518719
googlers1057518719
pharmgkbrs1057518719
gwascentralrs1057518719
openSNPrs1057518719
23andMers1057518719
23andMe allrs1057518719
SNPshotrs1057518719
SNPdbers1057518719
MSV3drs1057518719
GWAS Ctlgrs1057518719
Max Magnitude0
ClinVar
Risk rs1057518719(-;-)
Alt rs1057518719(-;-)
Reference Rs1057518719(TCGT;TCGT)
Significance Pathogenic
Disease CONGENITAL DISORDER OF GLYCOSYLATION
Variation info
Gene SLC35A2
CLNDBN CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
Reversed 1
HGVS NC_000023.10:g.48762566_48762569delACGA
CLNSRC
CLNACC RCV000415221.1,