Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1052693
rs1052693
Entrez Id: 2968
Gene Symbol: GTF2H4
GTF2H4
CUI: C0577608
Disease:
C4 complement assay (procedure)
G 0.800 GeneticVariation GWASDB Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects. 23028341 2012
dbSNP: rs1052693
rs1052693
Entrez Id: 2968
Gene Symbol: GTF2H4
GTF2H4
CUI: C0577608
Disease:
C4 complement assay (procedure)
G 0.800 GeneticVariation GWASCAT Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects. 23028341 2012
dbSNP: rs886420
rs886420
Entrez Id: 2968
Gene Symbol: GTF2H4
GTF2H4
CUI: C0036202
Disease:
Sarcoidosis
A 0.700 GeneticVariation GWASCAT High-Density Genetic Mapping Identifies New Susceptibility Variants in Sarcoidosis Phenotypes and Shows Genomic-driven Phenotypic Differences. 26651848 2016
dbSNP: rs3130780
rs3130780
Entrez Id: 2968
Gene Symbol: GTF2H4
GTF2H4
CUI: C0019163
Disease:
Hepatitis B
0.700 GeneticVariation GWASDB A genome-wide association study identified new variants associated with the risk of chronic hepatitis B. 23760081 2013
dbSNP: rs3218822
rs3218822
Entrez Id: 2968;57176
Gene Symbol: GTF2H4;VARS2
GTF2H4;VARS2
CUI: C0042900
Disease:
Vitiligo
0.700 GeneticVariation GWASDB Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC. 20526339 2010
dbSNP: rs1264308
rs1264308
Entrez Id: 2968;57176
Gene Symbol: GTF2H4;VARS2
GTF2H4;VARS2
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE We identified four independent SNPs associated with BC risk, BIVM-ERCC5 rs1323697_C (OR = 1.06, 95% CI = 1.03-1.10), GTF2H4 rs1264308_T (OR = 0.93, 95% CI = 0.89-0.97), COPS2 rs141308737_C deletion (OR = 1.06, 95% CI = 1.03-1.09) and ELL rs1469412_C (OR = 0.93, 95% CI = 0.90-0.96). 31026346 2019
dbSNP: rs1264308
rs1264308
Entrez Id: 2968;57176
Gene Symbol: GTF2H4;VARS2
GTF2H4;VARS2
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE We identified four independent SNPs associated with BC risk, BIVM-ERCC5 rs1323697_C (OR = 1.06, 95% CI = 1.03-1.10), GTF2H4 rs1264308_T (OR = 0.93, 95% CI = 0.89-0.97), COPS2 rs141308737_C deletion (OR = 1.06, 95% CI = 1.03-1.09) and ELL rs1469412_C (OR = 0.93, 95% CI = 0.90-0.96). 31026346 2019
dbSNP: rs114596632
rs114596632
Entrez Id: 2968;57176
Gene Symbol: GTF2H4;VARS2
GTF2H4;VARS2
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE As a result, 14 SNPs had a significant odds ratio (OR) for lung cancer risk with P FDR < 0.05, of which rs3115672 in MSH5 (OR = 1.20, 95% CI = 1.14-1.27) and rs114596632 in GTF2H4 (OR = 1.19, 95% CI = 1.12-1.25) at 6q21.33 were the most statistically significant (P combined = 3.99×10(-11) and P combined = 5.40×10(-10), respectively). 27288692 2016
dbSNP: rs114596632
rs114596632
Entrez Id: 2968;57176
Gene Symbol: GTF2H4;VARS2
GTF2H4;VARS2
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE As a result, 14 SNPs had a significant odds ratio (OR) for lung cancer risk with P FDR < 0.05, of which rs3115672 in MSH5 (OR = 1.20, 95% CI = 1.14-1.27) and rs114596632 in GTF2H4 (OR = 1.19, 95% CI = 1.12-1.25) at 6q21.33 were the most statistically significant (P combined = 3.99×10(-11) and P combined = 5.40×10(-10), respectively). 27288692 2016
dbSNP: rs114596632
rs114596632
Entrez Id: 2968;57176
Gene Symbol: GTF2H4;VARS2
GTF2H4;VARS2
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE As a result, 14 SNPs had a significant odds ratio (OR) for lung cancer risk with P FDR < 0.05, of which rs3115672 in MSH5 (OR = 1.20, 95% CI = 1.14-1.27) and rs114596632 in GTF2H4 (OR = 1.19, 95% CI = 1.12-1.25) at 6q21.33 were the most statistically significant (P combined = 3.99×10(-11) and P combined = 5.40×10(-10), respectively). 27288692 2016
dbSNP: rs1264307
rs1264307
Entrez Id: 2968;57176
Gene Symbol: GTF2H4;VARS2
GTF2H4;VARS2
CUI: C3853540
Disease:
Aspirin exacerbated respiratory disease
0.010 GeneticVariation BEFREE As a result, when adjusted for age, gender, smoking status and atopy as covariates, the rs1264307 variant and two haplotypes showed nominal signals in the association with AERD (P = 0.02-0.04), but the significances disappeared after corrections for multiple testing (corrected P > 0.05). 22524621 2012
dbSNP: rs750323550
rs750323550
Entrez Id: 2968
Gene Symbol: GTF2H4
GTF2H4
CUI: C1955934
Disease:
Trichothiodystrophy Syndromes
0.010 GeneticVariation BEFREE This con-stitutes a model system allowing us to correlate the relative expression levels of the XPB-A355C (TTD) and XPB-T296C (XP/CS) genes with various DNA repair properties. 10332046 1999
dbSNP: rs750323550
rs750323550
Entrez Id: 2968
Gene Symbol: GTF2H4
GTF2H4
CUI: C4304411
Disease:
Xeroderma pigmentosum and Cockayne syndrome complex
0.010 GeneticVariation BEFREE In the present work, we studied cellular DNA repair properties of skin fibro-blasts from two patients mutated in the XPB gene: an XP/CS patient cell (XPCS2BA) with a T296C (F99S) transition and a TTD patient cell (TTD6VI) exhibiting an A355C (T119P) transversion. 10332046 1999