YY1, YY1 transcription factor, 7528

N. diseases: 245; N. variants: 10
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555370868
rs1555370868 		1.000 14 100276601 missense variant A/C snv
CUI: C4479652
Disease: GABRIELE-DE VRIES SYNDROME
GABRIELE-DE VRIES SYNDROME 		0.700 1.000 2 2010 2017
dbSNP: rs28470843
rs28470843 		14 100276321 non coding transcript exon variant T/A;C snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs7153665
rs7153665 		1.000 0.080 14 100264583 intron variant A/G snv 0.63
CUI: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
Secondary malignant neoplasm of colon and/or rectum 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs9291
rs9291 		0.925 0.040 14 100282507 3 prime UTR variant A/C snv 0.89
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs9291
rs9291 		0.925 0.040 14 100282507 3 prime UTR variant A/C snv 0.89
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs1131692043
rs1131692043 		1.000 14 100277493 missense variant G/T snv
CUI: C4479652
Disease: GABRIELE-DE VRIES SYNDROME
GABRIELE-DE VRIES SYNDROME 		0.700 0
dbSNP: rs1131692044
rs1131692044 		1.000 14 100277451 missense variant C/G snv
CUI: C4479652
Disease: GABRIELE-DE VRIES SYNDROME
GABRIELE-DE VRIES SYNDROME 		0.700 0
dbSNP: rs1131692045
rs1131692045 		1.000 14 100276616 stop gained C/T snv
CUI: C4479652
Disease: GABRIELE-DE VRIES SYNDROME
GABRIELE-DE VRIES SYNDROME 		0.700 0
dbSNP: rs1131692046
rs1131692046 		1.000 14 100239779 stop gained A/T snv
CUI: C4479652
Disease: GABRIELE-DE VRIES SYNDROME
GABRIELE-DE VRIES SYNDROME 		0.700 0
dbSNP: rs1131692163
rs1131692163 		1.000 14 100277452 missense variant T/C snv
CUI: C4479652
Disease: GABRIELE-DE VRIES SYNDROME
GABRIELE-DE VRIES SYNDROME 		0.700 0
dbSNP: rs386834266
rs386834266 		1.000 0.120 14 100277470 missense variant C/G snv
CUI: C0021670
Disease: insulinoma
insulinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.020 1.000 2 2013 2017
dbSNP: rs386834266
rs386834266 		1.000 0.120 14 100277470 missense variant C/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015