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rs879253731

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs879253731(G;T)
Make rs879253731(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position10368060
GeneTYK2
is asnp
is mentioned by
dbSNPrs879253731
dbSNP (classic)rs879253731
ClinGenrs879253731
ebirs879253731
HLIrs879253731
Exacrs879253731
Gnomadrs879253731
Varsomers879253731
LitVarrs879253731
Maprs879253731
PheGenIrs879253731
Biobankrs879253731
1000 genomesrs879253731
hgdprs879253731
ensemblrs879253731
geneviewrs879253731
scholarrs879253731
googlers879253731
pharmgkbrs879253731
gwascentralrs879253731
openSNPrs879253731
23andMers879253731
SNPshotrs879253731
SNPdbers879253731
MSV3drs879253731
GWAS Ctlgrs879253731
Max Magnitude0
ClinVar
Risk rs879253731(T;T)
Alt rs879253731(T;T)
Reference Rs879253731(G;G)
Significance Pathogenic
Disease Tyrosine kinase 2 deficiency
Variation info
Gene TYK2
CLNDBN Tyrosine kinase 2 deficiency
Reversed 1
HGVS NC_000019.9:g.10478736C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000210466.1,