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: rs121434278
rs121434278
ACADM
3 0.882 0.120 1 75740094 missense variant G/A snv 4.0E-05 7.0E-05 0.010 1.000 1 1997 1997
dbSNP: rs77931234
rs77931234
ACADM
3 0.925 0.120 1 75761161 missense variant A/C;G snv 3.3E-03 0.010 1.000 1 1996 1996
dbSNP: rs2856966
rs2856966
ADCYAP1
2 0.925 0.080 18 907709 missense variant A/G snv 0.19 0.18 0.020 1.000 2 2009 2013
dbSNP: rs1893154
rs1893154
ADCYAP1
2 0.925 0.080 18 905124 5 prime UTR variant A/G snv 0.72 0.010 1.000 1 2013 2013
dbSNP: rs8192597
rs8192597
ADCYAP1
1 1.000 0.040 18 907674 synonymous variant G/A snv 0.73 0.67 0.010 1.000 1 2013 2013
dbSNP: rs10081254
rs10081254
ADCYAP1R1
1 1.000 0.040 7 31082056 intron variant C/T snv 0.12 0.010 1.000 1 2013 2013
dbSNP: rs2267734
rs2267734
ADCYAP1R1
1 1.000 0.040 7 31095857 intron variant G/A snv 0.56 0.010 1.000 1 2013 2013
dbSNP: rs2302475
rs2302475
ADCYAP1R1
1 1.000 0.040 7 31081886 intron variant T/C snv 0.48 0.010 1.000 1 2013 2013
dbSNP: rs758995
rs758995
ADCYAP1R1
1 1.000 0.040 7 31064948 intron variant G/A snv 0.12 0.17 0.010 1.000 1 2013 2013
dbSNP: rs9951307
rs9951307
AQP4-AS1
5 0.882 0.120 18 26850565 intron variant G/A snv 0.65 0.010 1.000 1 2014 2014
dbSNP: rs2075575
rs2075575
AQP4 ; AQP4-AS1
5 0.851 0.200 18 26866562 intron variant G/A snv 0.31 0.020 1.000 2 2010 2014
dbSNP: rs3906956
rs3906956
AQP4 ; AQP4-AS1
1 1.000 0.040 18 26856350 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs72878794
rs72878794
AQP4 ; AQP4-AS1
1 1.000 0.040 18 26866839 intron variant C/A;T snv 8.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs1318358361
rs1318358361
ARID1B
13 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.010 1.000 1 2006 2006
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2011 2011
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs116840776
rs116840776
CAV3 ; SSUH2
2 1.000 0.040 3 8745627 missense variant C/G snv 1.4E-03 1.6E-03 0.010 1.000 1 2013 2013
dbSNP: rs121909281
rs121909281
CAV3 ; SSUH2
2 0.925 0.120 3 8733916 missense variant G/A;C snv 4.3E-04 0.700 1.000 1 2007 2007
dbSNP: rs121909282
rs121909282
CAV3 ; SSUH2
2 0.925 0.120 3 8745647 missense variant T/G snv 1.4E-05 0.700 1.000 1 2007 2007
dbSNP: rs72546668
rs72546668
CAV3 ; SSUH2
8 0.807 0.200 3 8745644 missense variant C/A;T snv 4.0E-06; 2.6E-03 0.700 0
dbSNP: rs80356779
rs80356779
CPT1A
10 0.776 0.320 11 68780662 missense variant G/A snv 3.2E-05 5.6E-05 0.010 1.000 1 2012 2012
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.010 1.000 1 2000 2000
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs4647924
rs4647924
FGFR3
49 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.010 1.000 1 2006 2006