Source: ALL
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: rs11119982
rs11119982
ATF3
1 1.000 0.080 1 212591502 intron variant C/T snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs1177506410
rs1177506410
AGT
12 0.776 0.240 1 230706148 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1275805226
rs1275805226
AGT
12 0.776 0.240 1 230706148 frameshift variant G/- del 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2003 2003
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2001 2001
dbSNP: rs2016347
rs2016347
IGF1R
9 0.790 0.160 15 98960571 3 prime UTR variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2740574
rs2740574
CYP3A4
12 0.807 0.360 7 99784473 upstream gene variant C/T snv 0.78 0.010 < 0.001 1 2010 2010
dbSNP: rs370402227
rs370402227
NOS3
4 0.925 0.120 7 150996443 missense variant G/A;C snv 1.1E-05 0.010 1.000 1 2003 2003
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2014 2014
dbSNP: rs523349
rs523349
SRD5A2
21 0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06 0.010 1.000 1 2012 2012
dbSNP: rs6471
rs6471
CYP21A2
24 0.683 0.360 6 32040110 missense variant G/A;C;T snv 1.2E-05; 5.3E-03 0.010 < 0.001 1 2010 2010
dbSNP: rs776746
rs776746
CYP3A5 ; ZSCAN25
21 0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72 0.010 < 0.001 1 2010 2010
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2004 2014
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.030 1.000 3 1999 2004
dbSNP: rs1232880706
rs1232880706
FBN1
36 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
dbSNP: rs1247665387
rs1247665387
FA2H
14 0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 0.700 0
dbSNP: rs137854889
rs137854889
ZMPSTE24
31 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs1563183492
rs1563183492
AUTS2
32 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
dbSNP: rs61750420
rs61750420
PEX1
52 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
dbSNP: rs66527965
rs66527965
COL1A1
31 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
dbSNP: rs780533096
rs780533096
MIPEP
44 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
dbSNP: rs866294686
rs866294686
TRIM8 ; LOC105378460
43 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0