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rs770927552

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAGC;AAGC) 0 common in clinvar
Make rs770927552(-;-)
Make rs770927552(-;AAGC)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position10368400
GeneTYK2
is asnp
is mentioned by
dbSNPrs770927552
dbSNP (classic)rs770927552
ClinGenrs770927552
ebirs770927552
HLIrs770927552
Exacrs770927552
Gnomadrs770927552
Varsomers770927552
LitVarrs770927552
Maprs770927552
PheGenIrs770927552
Biobankrs770927552
1000 genomesrs770927552
hgdprs770927552
ensemblrs770927552
geneviewrs770927552
scholarrs770927552
googlers770927552
pharmgkbrs770927552
gwascentralrs770927552
openSNPrs770927552
23andMers770927552
SNPshotrs770927552
SNPdbers770927552
MSV3drs770927552
GWAS Ctlgrs770927552
Max Magnitude0
ClinVar
Risk rs770927552(-;-)
Alt rs770927552(-;-)
Reference Rs770927552(AAGC;AAGC)
Significance Pathogenic
Disease Tyrosine kinase 2 deficiency
Variation info
Gene TYK2
CLNDBN Tyrosine kinase 2 deficiency
Reversed 0
HGVS NC_000019.9:g.10479076_10479079delAAGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000014228.25,