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: rs826682
rs826682
LIMS1
1 2 108615932 intron variant A/C snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs1801689
rs1801689
APOH
7 17 66214462 missense variant A/C;G snv 4.0E-06; 2.4E-02; 4.8E-05 0.800 1.000 5 2012 2018
dbSNP: rs11207995
rs11207995
DOCK7
4 1 62583880 intron variant A/C;G snv 0.700 1.000 2 2018 2019
dbSNP: rs1169314
rs1169314
C12orf43
2 12 121005313 intron variant A/C;G snv 0.700 1.000 2 2015 2018
dbSNP: rs12113155
rs12113155
PRKAG2
3 7 151607887 intron variant A/C;G 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: rs144787122
rs144787122
SNX8
1 7 2256917 missense variant A/C;G snv 1.9E-03 2.0E-03 0.700 1.000 1 2018 2018
dbSNP: rs373579
rs373579
FCGR2A
2 1 161513694 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs5471
rs5471
HP ; TXNL4B
6 0.882 0.160 16 72054562 5 prime UTR variant A/C;G snv 7.9E-03 0.700 1.000 1 2018 2018
dbSNP: rs598962
rs598962
ABCD3
3 1 94451093 intron variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs655246
rs655246 		3 1 109289661 downstream gene variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs7162932
rs7162932
TPM1
3 15 63060452 intron variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs77960347
rs77960347
LIPG
6 18 49583585 missense variant A/C;G snv 4.0E-06; 8.7E-03 0.700 1.000 1 2018 2018
dbSNP: rs2328223
rs2328223 		3 20 17865277 intergenic variant A/C;G;T snv 0.800 1.000 4 2013 2019
dbSNP: rs2980875
rs2980875 		6 8 125469505 intron variant A/C;G;T snv 0.800 1.000 2 2012 2018
dbSNP: rs360801
rs360801
EHBP1
1 2 62728252 intron variant A/C;G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs1169288
rs1169288
HNF1A ; HNF1A-AS1
21 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 0.800 1.000 7 2010 2019
dbSNP: rs6657811
rs6657811
CELSR2
4 1 109264661 intron variant A/C;T snv 4.0E-06; 0.10 0.800 1.000 4 2008 2019
dbSNP: rs10789117
rs10789117
ANGPTL3 ; DOCK7
5 1 62606594 intron variant A/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs10889353
rs10889353
DOCK7
5 1 62652525 intron variant A/C;T snv 0.700 1.000 1 2019 2019
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: rs221797
rs221797
GIGYF1
2 7 100688351 5 prime UTR variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs28537499
rs28537499
LOC105375199
1 7 25975772 intergenic variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs28555129
rs28555129
MLYCD ; OSGIN1 ; LOC105371371
1 16 83951171 missense variant A/C;T snv 6.5E-06; 1.9E-05; 6.5E-06; 0.71 0.70 0.700 1.000 1 2018 2018
dbSNP: rs387976
rs387976
NECTIN2
4 1.000 0.080 19 44875803 intron variant A/C;T snv 0.700 1.000 1 2012 2012