Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1564872328
rs1564872328
SBF2 ; SBF2-AS1
1.000 0.080 11 9807999 splice donor variant C/T snv
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.700 1.000 3 2003 2014
dbSNP: rs2220970
rs2220970
SBF2
11 9836202 intron variant G/A snv 0.80
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 2 2018 2019
dbSNP: rs752649372
rs752649372
SBF2
1.000 0.080 11 9989597 splice acceptor variant T/C snv 4.1E-06
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.700 1.000 2 2003 2014
dbSNP: rs10500715
rs10500715
SBF2
0.925 0.120 11 9951515 intron variant T/G snv 0.39
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.700 1.000 1 2014 2014
dbSNP: rs10500715
rs10500715
SBF2
0.925 0.120 11 9951515 intron variant T/G snv 0.39
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.700 1.000 1 2014 2014
dbSNP: rs10500721
rs10500721
SBF2
11 10182063 intron variant A/G snv 0.27
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs10500722
rs10500722
SBF2
11 10213811 intron variant T/G snv 0.71
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs10500724
rs10500724
SBF2
11 10280469 intron variant C/G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs10734650
rs10734650
SBF2
0.925 0.080 11 9820944 intron variant C/T snv 0.83
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1 		0.700 1.000 1 2018 2018
dbSNP: rs10734650
rs10734650
SBF2
0.925 0.080 11 9820944 intron variant C/T snv 0.83
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.700 1.000 1 2018 2018
dbSNP: rs10840349
rs10840349
SBF2
11 10054883 intron variant A/G;T snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs11042543
rs11042543
SBF2 ; LOC101928008
1.000 0.040 11 9918271 intron variant A/G snv 0.20
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs11042549
rs11042549
SBF2 ; LOC101928008
1.000 0.040 11 9927031 intron variant A/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs11042561
rs11042561
SBF2
0.925 0.040 11 9941510 intron variant C/A snv 0.20
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.700 1.000 1 2018 2018
dbSNP: rs11042561
rs11042561
SBF2
0.925 0.040 11 9941510 intron variant C/A snv 0.20
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs11042662
rs11042662
SBF2
11 10193627 intron variant C/T snv 0.27
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs11042702
rs11042702
SBF2
11 10266441 intron variant G/A snv 0.49
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs11042714
rs11042714
SBF2
11 10274104 intron variant T/G snv 0.46
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs11607174
rs11607174
SBF2
11 10284481 intron variant C/T snv 0.47
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs117518788
rs117518788
SBF2
11 9980672 intron variant C/T snv 2.9E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs11821308
rs11821308
SBF2
11 10140898 intron variant T/C;G snv 0.25
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs12361687
rs12361687
SBF2 ; LOC101928008
11 9868505 intron variant G/A snv 0.27
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs12362504
rs12362504
SBF2 ; LOC101928008
0.925 0.120 11 9907995 intron variant T/C snv 0.37
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.700 1.000 1 2014 2014
dbSNP: rs12362504
rs12362504
SBF2 ; LOC101928008
0.925 0.120 11 9907995 intron variant T/C snv 0.37
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.700 1.000 1 2017 2017
dbSNP: rs1372812
rs1372812
SBF2
0.925 0.040 11 10233236 intron variant T/C snv 2.2E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.700 1.000 1 2018 2018