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: rs13283456
rs13283456
PTGES2
3 0.925 0.080 9 128122474 missense variant C/A;T snv 4.0E-06; 0.13 0.010 1.000 1 2007 2007
dbSNP: rs2233546
rs2233546
CAPN5 ; OMP
1 1.000 0.040 11 77102915 missense variant C/A;G;T snv 1.4E-04; 4.1E-06; 7.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs2233549
rs2233549
CAPN5 ; OMP
1 1.000 0.040 11 77103064 synonymous variant G/A snv 0.22 0.21 0.010 1.000 1 2007 2007
dbSNP: rs2241883
rs2241883
FABP1
14 0.763 0.360 2 88124547 missense variant T/C snv 0.30 0.29 0.010 1.000 1 2007 2007
dbSNP: rs2291725
rs2291725
GIP
4 0.882 0.120 17 48961770 missense variant T/C snv 0.50 0.40 0.010 1.000 1 2007 2007
dbSNP: rs2291726
rs2291726
GIP
3 0.925 0.080 17 48961892 intron variant T/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs4945140
rs4945140
CAPN5
1 1.000 0.040 11 77074406 intron variant G/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs7566605
rs7566605
LOC107985940
11 0.752 0.320 2 118078449 regulatory region variant C/G snv 0.70 0.010 < 0.001 1 2007 2007
dbSNP: rs759364715
rs759364715
GIPR
2 1.000 0.040 19 45672880 missense variant G/A snv 2.0E-05 2.1E-05 0.010 1.000 1 2007 2007
dbSNP: rs767455
rs767455
TNFRSF1A
13 0.742 0.400 12 6341779 synonymous variant T/C snv 0.37 0.40 0.010 1.000 1 2007 2007
dbSNP: rs696217
rs696217
GHRL ; GHRLOS
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.020 1.000 2 2005 2008
dbSNP: rs10010131
rs10010131
WFS1
7 0.827 0.120 4 6291188 intron variant A/G snv 0.66 0.63 0.010 1.000 1 2008 2008
dbSNP: rs1460949856
rs1460949856
NR3C1
2 0.925 0.080 5 143314077 missense variant C/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2229616
rs2229616
MC4R
22 0.732 0.200 18 60372043 missense variant C/T snv 1.6E-02 1.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs2774279
rs2774279
USF1 ; ARHGAP30
3 0.925 0.080 1 161047766 synonymous variant C/T snv 0.27 0.27 0.010 1.000 1 2008 2008
dbSNP: rs2918419
rs2918419
NR3C1
2 0.925 0.040 5 143342788 intron variant T/C snv 0.15 0.010 1.000 1 2008 2008
dbSNP: rs370471092
rs370471092
LDLR
4 0.925 0.080 19 11110768 stop gained G/A;T snv 6.0E-05 0.010 1.000 1 2008 2008
dbSNP: rs3732581
rs3732581
PARL
9 0.790 0.120 3 183840614 missense variant C/G;T snv 0.46; 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs376207800
rs376207800
LDLR
3 0.882 0.080 19 11100340 missense variant C/G;T snv 1.2E-04 0.010 1.000 1 2008 2008
dbSNP: rs4402960
rs4402960
IGF2BP2
21 0.724 0.400 3 185793899 intron variant G/T snv 0.38 0.010 1.000 1 2008 2008
dbSNP: rs4917
rs4917
AHSG
9 0.790 0.160 3 186619924 missense variant T/C snv 0.68 0.68 0.010 1.000 1 2008 2008
dbSNP: rs4918
rs4918
AHSG
12 0.763 0.400 3 186620593 missense variant G/A;C snv 0.67 0.010 1.000 1 2008 2008
dbSNP: rs5219
rs5219
KCNJ11
25 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 0.010 1.000 1 2008 2008
dbSNP: rs5370
rs5370
EDN1
37 0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21 0.010 1.000 1 2008 2008
dbSNP: rs55951658
rs55951658
CYP3A4
7 0.827 0.200 7 99770202 missense variant T/A;C snv 4.1E-04 9.8E-05 0.010 1.000 1 2008 2008