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: rs10001545
rs10001545 		3 4 87254878 intergenic variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2018 2018
dbSNP: rs10787429
rs10787429
GPAM
2 10 112189906 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs10883437
rs10883437 		3 1.000 0.040 10 100035604 regulatory region variant T/A;G snv 0.43 0.800 1.000 1 2011 2011
dbSNP: rs11066280
rs11066280
HECTD4
27 0.742 0.280 12 112379979 intron variant T/A snv 7.0E-03 0.700 1.000 2 2011 2019
dbSNP: rs11124554
rs11124554
STRN
2 2 36922355 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs111532669
rs111532669
PTCH1
2 9 95446682 3 prime UTR variant C/T snv 1.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs11597390
rs11597390 		4 10 100101678 downstream gene variant G/A snv 0.29 0.700 1.000 1 2008 2008
dbSNP: rs11878604
rs11878604 		5 19 40827379 intron variant T/C snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs11976006
rs11976006
CREB5
3 1.000 0.040 7 28691895 intron variant G/A snv 6.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs12231737
rs12231737
TRAFD1
5 0.925 0.120 12 112136812 intron variant C/T snv 5.9E-03 0.700 1.000 1 2019 2019
dbSNP: rs12483959
rs12483959
PNPLA3
4 1.000 22 43930116 intron variant G/A;C;T snv 0.700 1.000 2 2011 2019
dbSNP: rs12500824
rs12500824
SHROOM3
3 1.000 0.040 4 76495474 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12748152
rs12748152 		8 1.000 0.120 1 26811902 upstream gene variant C/T snv 5.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs13077101
rs13077101
RABL3
4 3 120706484 intron variant T/C snv 0.700 1.000 1 2012 2012
dbSNP: rs13247499
rs13247499
JAZF1
2 7 28139639 intron variant C/A snv 0.10 0.700 1.000 1 2018 2018
dbSNP: rs13395911
rs13395911
EFHD1
3 2 232655544 intron variant A/T snv 0.59 0.700 1.000 1 2018 2018
dbSNP: rs144104656
rs144104656 		3 1.000 0.120 2 118661291 regulatory region variant A/G snv 1.1E-03 0.700 1.000 1 2017 2017
dbSNP: rs144983009
rs144983009 		2 5 56792072 intergenic variant C/T snv 5.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs147481775
rs147481775
DEPDC5
3 1.000 0.120 22 31829377 intron variant C/A snv 6.6E-03 0.700 1.000 1 2017 2017
dbSNP: rs149940960
rs149940960
GREB1
3 1.000 0.120 2 11641492 3 prime UTR variant T/C snv 1.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs1583686
rs1583686 		3 5 85922051 intergenic variant T/C snv 0.79 0.700 1.000 1 2012 2012
dbSNP: rs1658972
rs1658972 		2 9 6665010 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs16840760
rs16840760 		4 2 204118831 intergenic variant T/C snv 3.6E-02 0.700 1.000 1 2012 2012
dbSNP: rs174551
rs174551
FADS1 ; FADS2
6 11 61806212 5 prime UTR variant T/C snv 0.28 0.700 1.000 1 2018 2018