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: rs121908214
rs121908214
CACNA1A
4 0.925 0.080 19 13230185 missense variant T/G snv 0.010 1.000 1 1998 1998
dbSNP: rs1314386070
rs1314386070
DECR1
9 0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05 0.010 1.000 1 2002 2002
dbSNP: rs6313
rs6313
HTR2A
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.020 0.500 2 2001 2004
dbSNP: rs886039322
rs886039322
CACNA1A
2 1.000 0.080 19 13312778 missense variant T/C snv 8.9E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs121908225
rs121908225
CACNA1A
12 0.790 0.120 19 13365448 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs6318
rs6318
HTR2C ; LOC105373313
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.020 0.500 2 2004 2007
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2007 2007
dbSNP: rs758272654
rs758272654
GNAS
50 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs121918628
rs121918628
SCN1A ; SCN1A-AS1 ; LOC102724058
5 0.851 0.080 2 165998049 missense variant G/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2009 2009
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2009 2009
dbSNP: rs16022
rs16022
CACNA1A
1 19 13298882 missense variant C/G;T snv 0.13; 4.6E-06 0.010 1.000 1 2009 2009
dbSNP: rs16023
rs16023
CACNA1A
1 19 13298658 missense variant T/A;C snv 0.14 0.010 1.000 1 2009 2009
dbSNP: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2009 2009
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2009 2009
dbSNP: rs1800888
rs1800888
ADRB2
23 0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03 0.010 1.000 1 2009 2009
dbSNP: rs3918166
rs3918166
NOS3
2 7 150996468 missense variant G/A;C snv 3.9E-03; 8.8E-05 0.010 1.000 1 2009 2009
dbSNP: rs673
rs673
TNF
4 0.882 0.080 6 31575318 upstream gene variant G/A snv 1.8E-02 0.010 1.000 1 2009 2009
dbSNP: rs941298
rs941298
STX1A ; MIR4284
2 1.000 0.040 7 73710933 intron variant G/A snv 0.28 0.020 1.000 2 2009 2010
dbSNP: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2010 2010
dbSNP: rs1388271217
rs1388271217
PGR ; PGR-AS1
1 11 101128477 synonymous variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs142077957
rs142077957
PGR ; PGR-AS1
1 11 101127985 synonymous variant C/G;T snv 4.1E-06; 4.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs17561
rs17561
IL1A
23 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 0.010 1.000 1 2010 2010
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2010 2010
dbSNP: rs1801132
rs1801132
ESR1
22 0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80 0.010 1.000 1 2010 2010