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: rs1275988
rs1275988
KCNK3
6 1.000 0.080 2 26691496 upstream gene variant C/T snv 0.48 0.700 1.000 4 2017 2018
dbSNP: rs13139571
rs13139571
GUCY1A1 ; LOC107984032
9 1.000 0.040 4 155724361 intron variant C/A snv 0.22 0.700 1.000 4 2011 2018
dbSNP: rs17367504
rs17367504
MTHFR
9 1.000 0.040 1 11802721 intron variant A/G snv 0.14 0.700 1.000 4 2017 2018
dbSNP: rs1530440
rs1530440
CABCOCO1
6 1.000 0.040 10 61764833 intron variant C/T snv 0.15 0.700 1.000 3 2009 2018
dbSNP: rs2586886
rs2586886
KCNK3
4 1.000 0.080 2 26709163 intron variant C/G;T snv 0.700 1.000 3 2016 2019
dbSNP: rs6495122
rs6495122 		6 1.000 0.040 15 74833304 downstream gene variant A/C snv 0.44 0.700 1.000 3 2009 2018
dbSNP: rs10857147
rs10857147 		9 1.000 0.040 4 80259918 intergenic variant A/T snv 0.25 0.700 1.000 2 2018 2018
dbSNP: rs1126464
rs1126464
DPEP1
4 1.000 0.040 16 89637957 missense variant G/A;C snv 1.3E-05; 0.26 0.700 1.000 2 2016 2016
dbSNP: rs12509595
rs12509595 		10 1.000 0.080 4 80261400 intergenic variant T/C snv 0.23 0.700 1.000 2 2017 2018
dbSNP: rs1717027
rs1717027
ULK4
3 1.000 0.160 3 41946428 intron variant T/A;C snv 0.700 1.000 2 2013 2019
dbSNP: rs2067087
rs2067087
HOXA13 ; HOTTIP
6 1.000 0.080 7 27202041 non coding transcript exon variant G/C;T snv 0.700 1.000 2 2018 2018
dbSNP: rs2272007
rs2272007
ULK4
2 1.000 0.160 3 41954644 missense variant T/C snv 0.79 0.67 0.700 1.000 2 2016 2016
dbSNP: rs2384550
rs2384550 		5 1.000 0.040 12 114914926 regulatory region variant G/A snv 0.33 0.700 1.000 2 2009 2017
dbSNP: rs4409766
rs4409766
BORCS7 ; BORCS7-ASMT
6 1.000 0.040 10 102856906 intron variant T/C snv 0.14 0.700 1.000 2 2015 2017
dbSNP: rs604723
rs604723
ARHGAP42
9 1.000 0.040 11 100739815 intron variant T/C snv 0.78 0.700 1.000 2 2018 2018
dbSNP: rs6271
rs6271
DBH ; DBH-AS1
5 1.000 0.040 9 133657152 missense variant C/T snv 4.6E-02 4.8E-02 0.700 1.000 2 2016 2017
dbSNP: rs7500448
rs7500448
CDH13
3 1.000 0.040 16 83012185 intron variant A/G snv 0.20 0.700 1.000 2 2017 2019
dbSNP: rs11513729
rs11513729 		5 1.000 0.080 12 111835695 downstream gene variant C/T snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs1250259
rs1250259
FN1 ; LOC105373868
5 1.000 0.040 2 215435759 missense variant T/A snv 0.76 0.79 0.700 1.000 1 2019 2019
dbSNP: rs12521868
rs12521868
IRF1-AS1
3 1.000 0.040 5 132448701 intron variant G/T snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs17037390
rs17037390
MTHFR
3 1.000 0.040 1 11800786 non coding transcript exon variant G/A snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs1716983
rs1716983
ULK4
3 1.000 0.160 3 41922636 intron variant G/A;C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1876487
rs1876487
SPR
2 1.000 0.040 2 72887223 upstream gene variant A/C snv 0.54 0.700 1.000 1 2017 2017
dbSNP: rs1918974
rs1918974
MECOM ; MECOM-AS1
3 1.000 0.040 3 169448100 intron variant C/T snv 0.57 0.700 1.000 1 2009 2009
dbSNP: rs2071550
rs2071550
HLA-DQB2
2 1.000 0.120 6 32763163 intron variant C/A snv 0.30 0.700 1.000 1 2018 2018