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: rs11570255
rs11570255
EDN3
7 1.000 20 59300861 missense variant G/A;T snv 3.3E-03; 2.9E-05 0.700 1.000 1 2012 2012
dbSNP: rs11571151
rs11571151
PGR ; PGR-AS1
6 11 101127486 missense variant C/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs11800231
rs11800231
PCSK9
2 1 55052267 non coding transcript exon variant G/A;T snv 5.2E-02; 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs11806129
rs11806129
ABCA4
3 1 94016821 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs11854545
rs11854545
ACAN
2 15 88825873 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs12113155
rs12113155
PRKAG2
3 7 151607887 intron variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs12394306
rs12394306
SYN1
4 X 47576648 splice region variant A/C;T snv 4.3E-03 0.700 1.000 1 2012 2012
dbSNP: rs1321655
rs1321655
ATP1A2
5 1 160124668 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs13465
rs13465
ILF3
3 19 10692116 3 prime UTR variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs1501908
rs1501908 		5 1.000 0.040 5 156971158 intergenic variant G/A;C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs16884688
rs16884688
CDKAL1
2 6 21220145 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs16940391
rs16940391
LIPC
3 15 58507449 intron variant C/A;G snv 0.700 1.000 1 2012 2012
dbSNP: rs16991720
rs16991720
KCNE1
4 21 34484464 intron variant A/C snv 0.700 1.000 1 2012 2012
dbSNP: rs16996119
rs16996119
GATAD2A
2 19 19501816 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs17240378
rs17240378
LCAT
6 16 67942790 intron variant G/C;T snv 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs174548
rs174548
FADS1 ; FADS2
17 0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs174576
rs174576
FADS2
14 0.851 0.200 11 61836038 intron variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs174601
rs174601
FADS2
12 0.925 0.080 11 61855668 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs17725246
rs17725246
NPC1L1
4 7 44542387 upstream gene variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs1859287
rs1859287
SUGP1
4 19 19311378 intron variant T/A;C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs1898591
rs1898591
PDE1A
2 2 182378241 intron variant T/A;G snv 0.700 1.000 1 2012 2012
dbSNP: rs2001945
rs2001945 		10 8 125465736 upstream gene variant G/A;C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2075642
rs2075642
NECTIN2
3 19 44874210 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2228603
rs2228603
NCAN
12 0.790 0.360 19 19219115 missense variant C/A;T snv 2.8E-05; 5.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs2254287
rs2254287
COL11A2
3 1.000 0.040 6 33176171 intron variant C/A;G;T snv 0.700 1.000 1 2008 2008