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rs373562040

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs373562040(C;T)
Make rs373562040(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position102344566
GeneSLC39A8
is asnp
is mentioned by
dbSNPrs373562040
ebirs373562040
HLIrs373562040
Exacrs373562040
Varsomers373562040
Maprs373562040
PheGenIrs373562040
hapmaprs373562040
1000 genomesrs373562040
hgdprs373562040
ensemblrs373562040
gopubmedrs373562040
geneviewrs373562040
scholarrs373562040
googlers373562040
pharmgkbrs373562040
gwascentralrs373562040
openSNPrs373562040
23andMers373562040
23andMe allrs373562040
SNP Nexus

SNPshotrs373562040
SNPdbers373562040
MSV3drs373562040
GWAS Ctlgrs373562040
Max Magnitude0
ClinVar
Risk rs373562040(T;T)
Alt rs373562040(T;T)
Reference rs373562040(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.103265723C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000203237.1, RCV000203267.1,