Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315377
rs74315377
TBX19
0.800 GeneticVariation UNIPROT A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins. 11290323

2001
dbSNP: rs74315377
rs74315377
TBX19
T 0.800 CausalMutation CLINVAR

dbSNP: rs74315378
rs74315378
TBX19
0.710 GeneticVariation BEFREE The methionine 86 arginine (M86R) TPIT mutation was recently identified in compound heterozygosity with the 782delA frame-shift mutation in two siblings with early-onset IAD. 17652218

2007
dbSNP: rs74315378
rs74315378
TBX19
G 0.710 CausalMutation CLINVAR

dbSNP: rs988133284
rs988133284
RPE65
C 0.700 CausalMutation CLINVAR Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis. 30576320

2018
dbSNP: rs140528998
rs140528998
TBX19
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553289042
rs1553289042
TBX19
T 0.700 CausalMutation CLINVAR

dbSNP: rs1558190339
rs1558190339
TBX19
T 0.700 CausalMutation CLINVAR

dbSNP: rs1558192351
rs1558192351
TBX19
A 0.700 CausalMutation CLINVAR

dbSNP: rs28931591
rs28931591
CHRNA4
A 0.700 CausalMutation CLINVAR

dbSNP: rs730880274
rs730880274
TBX19
C 0.700 CausalMutation CLINVAR

dbSNP: rs74315376
rs74315376
TBX19
T 0.700 CausalMutation CLINVAR

dbSNP: rs763818059
rs763818059
TBX19
C 0.700 CausalMutation CLINVAR