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rs869320745

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CCAGGGAGG;CCAGGGAGG) 0 common in clinvar
Make rs869320745(-;-)
Make rs869320745(-;CCAGGGAGG)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position10358003
GeneTYK2
is asnp
is mentioned by
dbSNPrs869320745
dbSNP (classic)rs869320745
ClinGenrs869320745
ebirs869320745
HLIrs869320745
Exacrs869320745
Gnomadrs869320745
Varsomers869320745
LitVarrs869320745
Maprs869320745
PheGenIrs869320745
Biobankrs869320745
1000 genomesrs869320745
hgdprs869320745
ensemblrs869320745
geneviewrs869320745
scholarrs869320745
googlers869320745
pharmgkbrs869320745
gwascentralrs869320745
openSNPrs869320745
23andMers869320745
SNPshotrs869320745
SNPdbers869320745
MSV3drs869320745
GWAS Ctlgrs869320745
Max Magnitude0
ClinVar
Risk rs869320745(-;-)
Alt rs869320745(-;-)
Reference Rs869320745(CCAGGGAGG;CCAGGGAGG)
Significance Pathogenic
Disease Tyrosine kinase 2 deficiency
Variation info
Gene TYK2
CLNDBN Tyrosine kinase 2 deficiency
Reversed 1
HGVS NC_000019.9:g.10468679_10468687delCCTCCCTGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000144052.3,