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: rs121964904
rs121964904
AGA
4 177438764 missense variant C/G snv 7.8E-04 5.4E-04
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria
0.840 1.000 4 1991 2016
dbSNP: rs1468326
rs1468326
12 748335 upstream gene variant A/C;T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.040 1.000 4 2005 2018
dbSNP: rs111253292
rs111253292
4 47661743 missense variant T/G snv 4.6E-03 2.0E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.030 1.000 3 2007 2012
dbSNP: rs1397858410
rs1397858410
14 92932714 missense variant G/A snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.030 1.000 3 2007 2016
dbSNP: rs1467252662
rs1467252662
5 151851530 missense variant G/T snv 4.0E-06
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia
0.030 1.000 3 1999 2004
dbSNP: rs2301365
rs2301365
16 11281429 intron variant G/T snv 0.21
CUI: C0021364
Disease: Male infertility
Male infertility
0.030 1.000 3 2015 2018
dbSNP: rs28368082
rs28368082
20 57335452 missense variant C/T snv 5.7E-05
CUI: C0021364
Disease: Male infertility
Male infertility
0.030 1.000 3 2011 2017
dbSNP: rs35929607
rs35929607
2 168179226 intron variant A/G snv 0.27
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.030 0.667 3 2011 2016
dbSNP: rs375526265
rs375526265
14 20457260 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 1.000 3 2001 2017
dbSNP: rs6749447
rs6749447
2 168184876 intron variant T/G snv 0.37
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.030 0.667 3 2013 2018
dbSNP: rs75770792
rs75770792
4 47661782 missense variant G/A snv 4.6E-03 2.0E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.030 1.000 3 2007 2012
dbSNP: rs9658667
rs9658667
14 92932705 missense variant G/A snv 3.1E-02 2.3E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.030 1.000 3 2007 2016
dbSNP: rs11105378
rs11105378
12 89696964 intron variant C/T snv 0.15
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.020 1.000 2 2010 2012
dbSNP: rs1181611385
rs1181611385
10 133394232 synonymous variant C/A;G;T snv 9.2E-06; 9.2E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 1.000 2 2017 2017
dbSNP: rs11821102
rs11821102
11 35230997 3 prime UTR variant G/A snv 6.8E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 1.000 2 2016 2016
dbSNP: rs11821102
rs11821102
11 35230997 3 prime UTR variant G/A snv 6.8E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 1.000 2 2016 2016
dbSNP: rs11898505
rs11898505
2 54457420 intron variant A/G snv 0.76
CUI: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures
0.020 1.000 2 2010 2013
dbSNP: rs1201894677
rs1201894677
6 43770833 missense variant G/A snv 1.6E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 1.000 2 2015 2015
dbSNP: rs13208321
rs13208321
6 96412478 intron variant A/G;T snv
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
0.020 1.000 2 2015 2017
dbSNP: rs142480126
rs142480126
19 44907825 missense variant G/A snv 8.0E-06
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.020 1.000 2 2009 2009
dbSNP: rs149642280
rs149642280
14 103699501 missense variant C/T snv 1.0E-04; 4.0E-06 3.5E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 < 0.001 2 2003 2006
dbSNP: rs149642280
rs149642280
14 103699501 missense variant C/T snv 1.0E-04; 4.0E-06 3.5E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 < 0.001 2 2003 2006
dbSNP: rs149808404
rs149808404
11 116790406 stop gained G/A;C snv 4.1E-05; 8.1E-06
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.020 1.000 2 2014 2019
dbSNP: rs150759461
rs150759461
16 15778831 missense variant G/A snv 1.7E-03 1.7E-03
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
0.020 1.000 2 2018 2018
dbSNP: rs1610216
rs1610216
16 56608372 upstream gene variant A/G snv 0.30
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 1.000 2 2014 2015