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rs779241085

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs779241085(A;A)
Make rs779241085(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position102305054
GeneSLC39A8
is asnp
is mentioned by
dbSNPrs779241085
ebirs779241085
HLIrs779241085
Exacrs779241085
Varsomers779241085
Maprs779241085
PheGenIrs779241085
hapmaprs779241085
1000 genomesrs779241085
hgdprs779241085
ensemblrs779241085
gopubmedrs779241085
geneviewrs779241085
scholarrs779241085
googlers779241085
pharmgkbrs779241085
gwascentralrs779241085
openSNPrs779241085
23andMers779241085
23andMe allrs779241085
SNP Nexus

SNPshotrs779241085
SNPdbers779241085
MSV3drs779241085
GWAS Ctlgrs779241085
Max Magnitude0
ClinVar
Risk rs779241085(A;A)
Alt rs779241085(A;A)
Reference rs779241085(C;C)
Significance Pathogenic
Disease CONGENITAL DISORDER OF GLYCOSYLATION SLC39A8 deficiency
Variation info
Gene SLC39A8
CLNDBN CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn SLC39A8 deficiency
Reversed 0
HGVS NC_000004.11:g.103226211C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000203248.1, RCV000203267.1,