Source: BEFREE

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: rs11064560
rs11064560
12 834787 intron variant G/T snv 0.63
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 1.000 1 2014 2014
dbSNP: rs11554421
rs11554421
12 753986 missense variant G/A snv 0.12 9.8E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 1.000 1 2011 2011
dbSNP: rs11885
rs11885
12 753919 missense variant G/A;T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 1.000 1 2011 2011
dbSNP: rs34880640
rs34880640
12 754011 missense variant C/T snv 3.3E-03 1.0E-03
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 1.000 1 2011 2011
dbSNP: rs563030804
rs563030804
1.000 0.040 12 868394 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0877015
Disease: Pelvic Organ Prolapse
Pelvic Organ Prolapse
0.010 1.000 1 2015 2015
dbSNP: rs563691424
rs563691424
1.000 0.080 12 753860 missense variant C/T snv 6.2E-05 2.1E-05
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.010 1.000 1 2015 2015
dbSNP: rs563691424
rs563691424
1.000 0.080 12 753860 missense variant C/T snv 6.2E-05 2.1E-05
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma
0.010 1.000 1 2015 2015
dbSNP: rs7305099
rs7305099
12 866110 non coding transcript exon variant T/A;G snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 1.000 1 2019 2019
dbSNP: rs774207364
rs774207364
1.000 0.120 12 861184 missense variant G/A;C snv 4.0E-06; 4.0E-06
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.010 1.000 1 2013 2013
dbSNP: rs779099001
rs779099001
1.000 0.120 12 867971 missense variant A/G snv 4.0E-06
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy
0.010 1.000 1 2013 2013