Source: BEFREE ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909218
rs121909218
PTEN
12 0.672 0.360 10 87933145 missense variant G/A snv 0.820 1.000 2 1997 2015
dbSNP: rs587782350
rs587782350
PTEN
2 0.776 0.160 10 87957955 missense variant C/T snv 0.810 1.000 1 1997 2017
dbSNP: rs121909231
rs121909231
PTEN
5 0.667 0.600 10 87961095 stop gained C/A;T snv 0.730 1.000 3 1997 2015
dbSNP: rs121909219
rs121909219
PTEN
2 0.689 0.400 10 87957915 stop gained C/A;T snv 0.710 1.000 1 1997 2016
dbSNP: rs121909224
rs121909224
PTEN
7 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.710 1.000 1 1997 2013
dbSNP: rs562015640
rs562015640
PTEN
15 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.710 1.000 1 1997 2008
dbSNP: rs786201044
rs786201044
PTEN
3 0.827 0.200 10 87933165 missense variant T/C snv 0.710 0.857 1 2000 2013
dbSNP: rs1004819
rs1004819
IL23R ; C1orf141
9 0.776 0.360 1 67204530 intron variant G/A snv 0.30 0.010 1.000 1 2010 2010
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2015 2015
dbSNP: rs1085308048
rs1085308048
PTEN
2 0.851 0.320 10 87933175 stop gained T/G snv 0.010 1.000 1 1998 1998
dbSNP: rs11214077
rs11214077
SDHD ; TIMM8B
12 0.752 0.120 11 112087953 missense variant A/G snv 6.6E-03 6.7E-03 0.010 1.000 1 2015 2015
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2015 2015
dbSNP: rs1188536960
rs1188536960
SORD
5 0.882 0.120 15 45043305 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
9 0.763 0.160 7 55181312 missense variant G/T snv 0.010 1.000 1 2013 2013
dbSNP: rs147149347
rs147149347
EGFR ; EGFR-AS1
2 0.925 0.080 7 55181314 missense variant G/A;C;T snv 2.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs17234657
rs17234657 		3 0.882 0.120 5 40401407 intergenic variant T/G snv 0.14 0.010 1.000 1 2010 2010
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
201 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2018 2018
dbSNP: rs183606230
rs183606230
CDH2
3 0.882 0.080 18 28013691 missense variant A/G snv 4.0E-06 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs1861494
rs1861494
IFNG ; IFNG-AS1
15 0.716 0.400 12 68157629 intron variant C/T snv 0.75 0.010 1.000 1 2014 2014
dbSNP: rs199476086
rs199476086
BMPR1A
1 0.925 0.120 10 86919316 missense variant C/A;T snv 0.010 1.000 1 2001 2001
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs2066845
rs2066845
NOD2
43 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.010 1.000 1 2009 2009
dbSNP: rs212388
rs212388
LOC105378083 ; LOC112267968
4 0.827 0.240 6 159069404 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2201841
rs2201841
IL23R ; C1orf141
13 0.716 0.440 1 67228519 intron variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
36 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2010 2010