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rs864309660

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864309660(C;C)
Make rs864309660(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position102267916
GeneSLC39A8
is asnp
is mentioned by
dbSNPrs864309660
ebirs864309660
HLIrs864309660
Exacrs864309660
Varsomers864309660
Maprs864309660
PheGenIrs864309660
hapmaprs864309660
1000 genomesrs864309660
hgdprs864309660
ensemblrs864309660
gopubmedrs864309660
geneviewrs864309660
scholarrs864309660
googlers864309660
pharmgkbrs864309660
gwascentralrs864309660
openSNPrs864309660
23andMers864309660
23andMe allrs864309660
SNP Nexus

SNPshotrs864309660
SNPdbers864309660
MSV3drs864309660
GWAS Ctlgrs864309660
Max Magnitude0
ClinVar
Risk rs864309660(C;C)
Alt rs864309660(C;C)
Reference rs864309660(G;G)
Significance Pathogenic
Disease CONGENITAL DISORDER OF GLYCOSYLATION SLC39A8 deficiency
Variation info
Gene SLC39A8
CLNDBN CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn SLC39A8 deficiency
Reversed 1
HGVS NC_000004.11:g.103189073C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000203237.1, RCV000203267.1,