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: rs778139192
rs778139192
TICRR ; KIF7
14 0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05 0.700 0
dbSNP: rs1061622
rs1061622
TNFRSF1B
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2002 2002
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs141012637
rs141012637
SERPINB2 ; SERPINB10
4 0.851 0.320 18 63901881 stop gained C/A;T snv 7.0E-05 0.010 1.000 1 2003 2003
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs779829591
rs779829591
F3
5 0.827 0.320 1 94532395 missense variant G/A snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.010 1.000 1 2003 2003
dbSNP: rs1489441940
rs1489441940
PTPN1
2 0.925 0.200 20 50510548 missense variant C/G;T snv 6.4E-06; 4.5E-05 0.010 1.000 1 2004 2004
dbSNP: rs4994
rs4994
ADRB3
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.020 0.500 2 2000 2005
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2005 2005
dbSNP: rs141620200
rs141620200
SERPINA1
1 1.000 0.120 14 94379607 missense variant C/A;T snv 2.0E-03 0.010 1.000 1 2006 2006
dbSNP: rs1801276
rs1801276
IRS1
3 0.882 0.160 2 226797205 missense variant C/G snv 1.4E-02 1.3E-02 0.010 < 0.001 1 2006 2006
dbSNP: rs758272654
rs758272654
GNAS
50 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs1062809
rs1062809
FST
1 1.000 0.120 5 53484261 missense variant C/A;G snv 0.010 1.000 1 2007 2007
dbSNP: rs1127760
rs1127760
FST
1 1.000 0.120 5 53484287 missense variant T/A snv 0.010 1.000 1 2007 2007
dbSNP: rs1127761
rs1127761
FST
1 1.000 0.120 5 53484289 stop gained T/A;C snv 2.8E-05 0.010 1.000 1 2007 2007
dbSNP: rs11745088
rs11745088
FST
1 1.000 0.120 5 53483680 missense variant G/C snv 4.4E-03 4.2E-03 0.010 1.000 1 2007 2007
dbSNP: rs1423560
rs1423560
FST
1 1.000 0.120 5 53479932 upstream gene variant G/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs3797297
rs3797297
FST
1 1.000 0.120 5 53481826 intron variant G/T snv 0.18 0.010 1.000 1 2007 2007
dbSNP: rs5219
rs5219
KCNJ11
25 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 0.020 < 0.001 2 2007 2008
dbSNP: rs10152450
rs10152450
FEM1B
1 1.000 0.120 15 68279141 intron variant T/G snv 0.34 0.010 1.000 1 2008 2008
dbSNP: rs1044386
rs1044386
FEM1A
1 1.000 0.120 19 4795277 3 prime UTR variant G/A snv 0.20 0.010 1.000 1 2008 2008
dbSNP: rs11575937
rs11575937
LMNA
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs12460989
rs12460989 		1 1.000 0.120 19 4785155 non coding transcript exon variant T/G snv 0.11 0.010 1.000 1 2008 2008
dbSNP: rs1544210
rs1544210 		3 0.882 0.240 10 92728044 regulatory region variant G/A snv 0.39 0.010 1.000 1 2008 2008