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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1222174664
rs1222174664
SLCO6A1
5 0.827 0.280 5 102477801 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs2549513
rs2549513
MAF
4 0.851 0.080 16 79516830 downstream gene variant C/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.010 1.000 1 2007 2007
dbSNP: rs499818
rs499818 		4 0.851 0.080 6 13332235 upstream gene variant G/A snv 0.21 0.010 1.000 1 2007 2007
dbSNP: rs740363
rs740363
HSPA12A
5 0.851 0.080 10 116816095 intron variant G/A snv 0.40 0.010 1.000 1 2007 2007
dbSNP: rs958546
rs958546
LRRC63
3 0.882 0.040 13 46259582 intron variant G/C snv 0.29 0.010 1.000 1 2007 2007
dbSNP: rs34376731
rs34376731
PPP1R1A
2 0.925 0.040 12 54581014 missense variant C/T snv 4.6E-03 1.9E-02 0.020 1.000 2 2008 2009
dbSNP: rs5370
rs5370
EDN1
37 0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21 0.020 1.000 2 2008 2009
dbSNP: rs1056892
rs1056892
CBR3 ; CBR3-AS1
6 0.882 0.160 21 36146408 missense variant G/A snv 0.37 0.39 0.010 1.000 1 2008 2008
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.040 0.750 4 2009 2018
dbSNP: rs17859821
rs17859821
MMP2
2 1.000 0.040 16 55478141 intron variant G/A;C snv 0.11 0.020 1.000 2 2009 2009
dbSNP: rs243864
rs243864
MMP2
3 0.925 0.080 16 55478410 intron variant T/G snv 0.19 0.020 0.500 2 2009 2009
dbSNP: rs1009388
rs1009388
POMC
1 1.000 0.040 2 25168232 intron variant G/C snv 0.18 0.010 1.000 1 2009 2009
dbSNP: rs10757274
rs10757274
CDKN2B-AS1
22 0.701 0.320 9 22096056 intron variant A/G snv 0.41 0.010 1.000 1 2009 2009
dbSNP: rs10757278
rs10757278
CDKN2B-AS1
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.010 1.000 1 2009 2009
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2009 2009
dbSNP: rs2383206
rs2383206
CDKN2B-AS1
17 0.742 0.320 9 22115027 intron variant A/G snv 0.49 0.010 1.000 1 2009 2009
dbSNP: rs2383207
rs2383207
CDKN2B-AS1
22 0.695 0.280 9 22115960 intron variant A/G snv 0.64 0.010 1.000 1 2009 2009
dbSNP: rs243866
rs243866
MMP2
8 0.827 0.120 16 55477625 intron variant G/A snv 0.19 0.010 1.000 1 2009 2009
dbSNP: rs3754860
rs3754860
POMC
1 1.000 0.040 2 25170385 upstream gene variant C/T snv 0.22 0.010 1.000 1 2009 2009
dbSNP: rs397516089
rs397516089
MYH7
6 0.827 0.080 14 23429807 missense variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs5219
rs5219
KCNJ11
25 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 0.010 1.000 1 2009 2009
dbSNP: rs7799039
rs7799039
LOC105375494
33 0.649 0.560 7 128238730 upstream gene variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs76992529
rs76992529
TTR
36 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.070 0.857 7 2010 2019