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: rs30187
rs30187
ERAP1
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.020 1.000 2 2002 2006
dbSNP: rs13306425
rs13306425
HSD11B2
1 1.000 0.040 16 67435802 missense variant G/A snv 2.0E-04 1.8E-04 0.010 1.000 1 2006 2006
dbSNP: rs1394205
rs1394205
FSHR
3 0.925 0.120 2 49154446 5 prime UTR variant C/T snv 0.32 0.28 0.010 1.000 1 2006 2006
dbSNP: rs316019
rs316019
SLC22A2
8 0.790 0.360 6 160249250 missense variant A/C snv 0.90 0.89 0.010 1.000 1 2006 2006
dbSNP: rs370615893
rs370615893
HSD11B2
1 1.000 0.040 16 67436789 missense variant G/A;C snv 1.2E-05 3.5E-05 0.010 1.000 1 2006 2006
dbSNP: rs5193
rs5193
AGTR2
2 1.000 0.040 X 116173571 3 prime UTR variant G/T snv 0.19 0.010 < 0.001 1 2006 2006
dbSNP: rs772658003
rs772658003
SLC22A2
1 1.000 0.040 6 160249246 frameshift variant GAGAA/- delins 0.010 1.000 1 2006 2006
dbSNP: rs1415088003
rs1415088003
ACE
7 0.827 0.160 17 63489038 synonymous variant C/T snv 4.0E-06 0.040 1.000 4 1999 2007
dbSNP: rs6313
rs6313
HTR2A
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.020 1.000 2 2001 2007
dbSNP: rs1047047
rs1047047
GUCA2B
1 1.000 0.040 1 42153468 synonymous variant A/C;G;T snv 6.4E-05; 0.21; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1221928144
rs1221928144
ACE
1 1.000 0.040 17 63477950 missense variant G/A;C snv 8.2E-06 0.010 1.000 1 2007 2007
dbSNP: rs12708965
rs12708965
SLC12A3 ; MIR6863
1 1.000 0.040 16 56902407 missense variant C/T snv 3.1E-02 3.5E-02 0.010 1.000 1 2007 2007
dbSNP: rs1454007558
rs1454007558
GJA4 ; SMIM12 ; LOC105378642
1 1.000 0.040 1 34795038 synonymous variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs17197
rs17197
PTGER2
1 1.000 0.040 14 52327663 3 prime UTR variant G/A snv 0.78 0.010 1.000 1 2007 2007
dbSNP: rs2114406
rs2114406
RNLS ; LOC101929727
1 1.000 0.040 10 88273836 downstream gene variant A/G snv 0.29 0.010 1.000 1 2007 2007
dbSNP: rs2296545
rs2296545
RNLS ; LIPJ
8 0.851 0.160 10 88583080 missense variant C/G;T snv 0.46 0.010 1.000 1 2007 2007
dbSNP: rs2297566
rs2297566
GUCA2B
1 1.000 0.040 1 42153706 intron variant G/A snv 0.17 0.010 1.000 1 2007 2007
dbSNP: rs2304595
rs2304595
KLKB1
3 1.000 0.040 4 186251126 non coding transcript exon variant G/A snv 0.36 0.010 1.000 1 2007 2007
dbSNP: rs2576178
rs2576178
RNLS ; LIPJ
9 0.790 0.160 10 88583641 5 prime UTR variant A/G snv 0.29 0.010 1.000 1 2007 2007
dbSNP: rs2890565
rs2890565
UTS2
15 0.732 0.440 1 7849677 missense variant C/T snv 8.7E-02 5.6E-02 0.010 1.000 1 2007 2007
dbSNP: rs4135352
rs4135352
PPARG
2 0.925 0.120 3 12416709 missense variant C/G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs4253325
rs4253325
KLKB1
2 1.000 0.040 4 186257319 missense variant G/A snv 0.17 0.16 0.010 1.000 1 2007 2007
dbSNP: rs5517
rs5517
KLK1
2 1.000 0.040 19 50819976 missense variant T/C;G snv 0.33 0.010 1.000 1 2007 2007
dbSNP: rs883062
rs883062 		1 1.000 0.040 1 42144196 downstream gene variant G/A snv 0.42 0.010 1.000 1 2007 2007
dbSNP: rs10046
rs10046
CYP19A1 ; MIR4713HG
18 0.708 0.400 15 51210789 3 prime UTR variant G/A snv 0.45 0.43 0.010 1.000 1 2008 2008