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rs864309659

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs864309659(A;A)
Make rs864309659(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position102267901
GeneSLC39A8
is asnp
is mentioned by
dbSNPrs864309659
ebirs864309659
HLIrs864309659
Exacrs864309659
Varsomers864309659
Maprs864309659
PheGenIrs864309659
hapmaprs864309659
1000 genomesrs864309659
hgdprs864309659
ensemblrs864309659
gopubmedrs864309659
geneviewrs864309659
scholarrs864309659
googlers864309659
pharmgkbrs864309659
gwascentralrs864309659
openSNPrs864309659
23andMers864309659
23andMe allrs864309659
SNP Nexus

SNPshotrs864309659
SNPdbers864309659
MSV3drs864309659
GWAS Ctlgrs864309659
Max Magnitude0
ClinVar
Risk rs864309659(A;A)
Alt rs864309659(A;A)
Reference rs864309659(T;T)
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.103189058A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000203240.1, RCV000203261.1,