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rs372866837

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs372866837(A;G)
Make rs372866837(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position30615125
GeneTCN2
is asnp
is mentioned by
dbSNPrs372866837
ebirs372866837
HLIrs372866837
Exacrs372866837
Varsomers372866837
Maprs372866837
PheGenIrs372866837
hapmaprs372866837
1000 genomesrs372866837
hgdprs372866837
ensemblrs372866837
gopubmedrs372866837
geneviewrs372866837
scholarrs372866837
googlers372866837
pharmgkbrs372866837
gwascentralrs372866837
openSNPrs372866837
23andMers372866837
23andMe allrs372866837
SNP Nexus

SNPshotrs372866837
SNPdbers372866837
MSV3drs372866837
GWAS Ctlgrs372866837
Max Magnitude0
ClinVar
Risk rs372866837(G;G)
Alt rs372866837(G;G)
Reference rs372866837(A;A)
Significance Pathogenic
Disease Transcolabamin II deficiency
Variation info
Gene TCN2
CLNDBN Transcolabamin II deficiency
Reversed 0
HGVS NC_000022.10:g.31011112A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000120.3,