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: rs3753886
rs3753886
TAF5L
2 1.000 0.040 1 229602423 synonymous variant T/A;G snv 5.2E-05; 0.56 0.010 1.000 1 2005 2005
dbSNP: rs5355
rs5355
SELE ; C1orf112
14 0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02 0.010 1.000 1 2005 2005
dbSNP: rs80356610
rs80356610
KCNJ11
6 0.827 0.080 11 17387968 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs80356625
rs80356625
KCNJ11
6 0.827 0.280 11 17387491 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs121912645
rs121912645
KLF11
4 0.882 0.080 2 10048376 missense variant G/T snv 1.3E-04 8.4E-05 0.020 0.500 2 2005 2006
dbSNP: rs34336420
rs34336420
KLF11
4 0.882 0.080 2 10047996 missense variant C/G;T snv 4.0E-06; 3.3E-03 0.020 0.500 2 2005 2006
dbSNP: rs11868035
rs11868035
SREBF1 ; RAI1
14 0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33 0.010 1.000 1 2006 2006
dbSNP: rs1241356540
rs1241356540
ACE
5 0.851 0.160 17 63497137 missense variant C/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs1332629192
rs1332629192
ALB
7 0.851 0.200 4 73404374 missense variant C/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs137853247
rs137853247
HNF1A ; HNF1A-AS1
5 0.851 0.200 12 120978860 missense variant G/A;C snv 7.7E-04; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1388926124
rs1388926124
HNF1A ; HNF1A-AS1
2 1.000 0.040 12 120978862 missense variant G/A snv 0.010 < 0.001 1 2006 2006
dbSNP: rs16139
rs16139
NPY ; LOC107986777
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.010 < 0.001 1 2006 2006
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2006 2006
dbSNP: rs2236513
rs2236513
TOM1L2
2 1.000 0.040 17 17844052 3 prime UTR variant A/C;G snv 0.58 0.010 1.000 1 2006 2006
dbSNP: rs3734254
rs3734254
PPARD
14 0.752 0.240 6 35427233 3 prime UTR variant C/T snv 0.69 0.010 1.000 1 2006 2006
dbSNP: rs4606565
rs4606565
DHX37
2 1.000 0.040 12 124954003 splice region variant A/G snv 0.65 0.57 0.010 1.000 1 2006 2006
dbSNP: rs4810424
rs4810424
R3HDML
3 0.925 0.080 20 44346383 intron variant G/C;T snv 0.010 1.000 1 2006 2006
dbSNP: rs5569
rs5569
SLC6A2
19 0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs6502618
rs6502618
TOM1L2
2 1.000 0.040 17 17843427 downstream gene variant A/G snv 0.55 0.010 1.000 1 2006 2006
dbSNP: rs6902123
rs6902123
PPARD
3 0.925 0.080 6 35362644 intron variant T/C snv 0.24 0.010 1.000 1 2006 2006
dbSNP: rs767870
rs767870
ADIPOR2
4 0.882 0.120 12 1780657 intron variant G/A;C snv 0.82 0.010 1.000 1 2006 2006
dbSNP: rs775076567
rs775076567
TCF7
3 0.925 0.080 5 134138107 missense variant G/A snv 8.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs1800206
rs1800206
PPARA
35 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 0.030 0.667 3 2005 2007
dbSNP: rs1049353
rs1049353
CNR1
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2007 2007
dbSNP: rs10497721
rs10497721
TMEFF2 ; LOC101927366
2 1.000 0.040 2 192049636 intron variant C/A;T snv 0.700 1.000 1 2007 2007