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rs606231119

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs606231119(G;G)
Make rs606231119(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome22
Position30613044
GeneTCN2
is asnp
is mentioned by
dbSNPrs606231119
ebirs606231119
HLIrs606231119
Exacrs606231119
Varsomers606231119
Maprs606231119
PheGenIrs606231119
hapmaprs606231119
1000 genomesrs606231119
hgdprs606231119
ensemblrs606231119
gopubmedrs606231119
geneviewrs606231119
scholarrs606231119
googlers606231119
pharmgkbrs606231119
gwascentralrs606231119
openSNPrs606231119
23andMers606231119
23andMe allrs606231119
SNP Nexus

SNPshotrs606231119
SNPdbers606231119
MSV3drs606231119
GWAS Ctlgrs606231119
Max Magnitude0
ClinVar
Risk rs606231119(G;G)
Alt rs606231119(G;G)
Reference rs606231119(T;T)
Significance Pathogenic
Disease Transcolabamin II deficiency
Variation info
Gene TCN2
CLNDBN Transcolabamin II deficiency
Reversed 0
HGVS NC_000022.10:g.31009031T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000118.2,