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: rs1535
rs1535
FADS2
24 0.752 0.240 11 61830500 intron variant A/G snv 0.31 0.700 1.000 1 2018 2018
dbSNP: rs1551122
rs1551122
OTOGL
2 1.000 0.080 12 80372020 missense variant A/G snv 0.58 0.50 0.700 1.000 1 2018 2018
dbSNP: rs1570360
rs1570360
VEGFA
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2016 2016
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2009 2009
dbSNP: rs174530
rs174530
MYRF ; TMEM258
4 1.000 0.080 11 61779120 non coding transcript exon variant A/G snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs174554
rs174554
FADS1 ; FADS2
7 1.000 0.080 11 61811991 intron variant A/G snv 0.40 0.28 0.700 1.000 1 2018 2018
dbSNP: rs174562
rs174562
FADS1 ; FADS2
3 1.000 0.080 11 61817672 intron variant A/G snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs174564
rs174564
FADS1 ; FADS2
4 1.000 0.080 11 61820833 intron variant A/G snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs174566
rs174566
FADS1 ; FADS2
8 0.925 0.160 11 61824890 intron variant A/G snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs174592
rs174592
FADS2
4 1.000 0.080 11 61851136 intron variant A/G snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2013 2013
dbSNP: rs2074381
rs2074381
ALPK1
2 4 112432293 missense variant A/G snv 8.5E-03 5.5E-03 0.010 1.000 1 2013 2013
dbSNP: rs2271683
rs2271683
COL3A1
1 2 189009011 missense variant A/G snv 4.4E-03 1.6E-03 0.010 1.000 1 2009 2009
dbSNP: rs2404298
rs2404298
DLGAP2
2 1.000 0.080 8 1420853 intron variant A/G snv 0.84 0.700 1.000 1 2018 2018
dbSNP: rs371237692
rs371237692
REN
5 0.925 0.120 1 204159515 synonymous variant A/G snv 8.0E-06 3.5E-05 0.010 1.000 1 2012 2012
dbSNP: rs375411329
rs375411329
PPARG
1 3 12379746 missense variant A/G snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs41507953
rs41507953
EPHX2
10 0.790 0.280 8 27500988 missense variant A/G snv 8.7E-02 0.13 0.010 1.000 1 2017 2017
dbSNP: rs4293393
rs4293393
UMOD
8 0.827 0.200 16 20353266 intron variant A/G snv 0.20 0.010 1.000 1 2010 2010
dbSNP: rs447707
rs447707
NPHS1 ; KIRREL2
2 1.000 0.080 19 35856498 intron variant A/G snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs4725366
rs4725366
AOC1 ; LOC105375567
2 1.000 0.080 7 150824966 splice region variant A/G snv 0.81 0.700 1.000 1 2018 2018
dbSNP: rs4773144
rs4773144
COL4A1 ; COL4A2
7 0.827 0.080 13 110308365 intron variant A/G snv 0.42 0.010 1.000 1 2015 2015
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2016 2016
dbSNP: rs500456
rs500456 		1 7 54531089 intergenic variant A/G snv 0.47 0.700 1.000 1 2012 2012
dbSNP: rs6581768
rs6581768
LOC105369816
1 12 67683408 intergenic variant A/G snv 0.25 0.700 1.000 1 2011 2011
dbSNP: rs7195830
rs7195830
CYBA
6 0.851 0.080 16 88643304 3 prime UTR variant A/G snv 0.62 0.69 0.010 1.000 1 2013 2013