Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10766471
rs10766471
Entrez Id: 2965
Gene Symbol: GTF2H1
GTF2H1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11024625
rs11024625
Entrez Id: 2965;105376577
Gene Symbol: GTF2H1;LOC105376577
GTF2H1;LOC105376577
CUI: C0200635
Disease:
Lymphocyte Count measurement
0.700 GeneticVariation GWASDB The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes. 22286170 2012
dbSNP: rs4150558
rs4150558
Entrez Id: 2965
Gene Symbol: GTF2H1
GTF2H1
CUI: C0023530
Disease:
Leukopenia
0.010 GeneticVariation BEFREE Association with anemia and neutropenia were found in GP regimen. rs4150558 showed significant association with anemia in NP regimen. 28924235 2017
dbSNP: rs4150558
rs4150558
Entrez Id: 2965
Gene Symbol: GTF2H1
GTF2H1
CUI: C0027947
Disease:
Neutropenia
0.010 GeneticVariation BEFREE Association with anemia and neutropenia were found in GP regimen. rs4150558 showed significant association with anemia in NP regimen. 28924235 2017
dbSNP: rs4150558
rs4150558
Entrez Id: 2965
Gene Symbol: GTF2H1
GTF2H1
CUI: C0002871
Disease:
Anemia
0.010 GeneticVariation BEFREE Association with anemia and neutropenia were found in GP regimen. rs4150558 showed significant association with anemia in NP regimen. 28924235 2017
dbSNP: rs76732092
rs76732092
Entrez Id: 2965
Gene Symbol: GTF2H1
GTF2H1
CUI: C0040822
Disease:
Tremor
0.010 GeneticVariation BEFREE However, co-expression of WT and Q331K mutant (TDP-43(WTxQ331K)) resulted in an extremely aggressive motor phenotype with tremor from 3 weeks and progressive hind-limb paralysis necessitating euthanasia by 8-10 weeks of age. 26108367 2015
dbSNP: rs4596
rs4596
Entrez Id: 2965
Gene Symbol: GTF2H1
GTF2H1
CUI: C0007113
Disease:
Rectal Carcinoma
0.010 GeneticVariation BEFREE After stratification for tumor location, the association of both SNPs was significant only for rectal cancer (rs7356: OR 1.52, 95% CI 1.02-2.26, P = 0.04 and rs4596: OR 0.69, 95% CI 0.50-0.94, P = 0.02; results not adjusted for multiple testing). 22581836 2012
dbSNP: rs4596
rs4596
Entrez Id: 2965
Gene Symbol: GTF2H1
GTF2H1
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE After stratification for tumor location, the association of both SNPs was significant only for rectal cancer (rs7356: OR 1.52, 95% CI 1.02-2.26, P = 0.04 and rs4596: OR 0.69, 95% CI 0.50-0.94, P = 0.02; results not adjusted for multiple testing). 22581836 2012
dbSNP: rs4150642
rs4150642
Entrez Id: 2965;105376577
Gene Symbol: GTF2H1;LOC105376577
GTF2H1;LOC105376577
CUI: C3888004
Disease:
HERMANSKY-PUDLAK SYNDROME 5
0.010 GeneticVariation BEFREE The region at 11p15.5-p13 (rs4150642; p = 3.20×10(-111)) contains serum amyloid A1 (SAA1) and the adjacent general transcription factor 2 H1 (GTF2H1), Hermansky-Pudlak Syndrome 5 (HPS5), lactate dehydrogenase A (LDHA), and lactate dehydrogenase C (LDHC). 21124955 2010