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: rs397516896
rs397516896
BRAF
11 0.763 0.360 7 140753355 missense variant C/G;T snv 0.710 1.000 2 2011 2016
dbSNP: rs72773978
rs72773978
FOPNL
1 1.000 0.160 16 15880785 intron variant A/T snv 8.1E-02 0.710 1.000 2 2015 2018
dbSNP: rs8058578
rs8058578
SRCAP
1 1.000 0.160 16 30714927 intron variant C/T snv 0.32 0.710 1.000 2 2016 2017
dbSNP: rs9344
rs9344
CCND1
34 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 0.710 1.000 2 2013 2017
dbSNP: rs1125203
rs1125203
ULK4
1 1.000 0.160 3 41719403 intron variant T/C snv 0.33 0.700 1.000 2 2011 2013
dbSNP: rs1128226
rs1128226
DNAH11 ; CDCA7L
1 1.000 0.160 7 21902051 3 prime UTR variant A/C snv 0.34 0.700 1.000 2 2011 2013
dbSNP: rs12234262
rs12234262
CDCA7L
1 1.000 0.160 7 21909685 intron variant C/T snv 0.49 0.700 1.000 2 2011 2013
dbSNP: rs12537531
rs12537531
DNAH11
1 1.000 0.160 7 21892426 missense variant C/G;T snv 1.8E-04; 0.39 0.700 1.000 2 2011 2013
dbSNP: rs17215589
rs17215589
ULK4
1 1.000 0.160 3 41789711 missense variant C/A;T snv 0.12 0.700 1.000 2 2011 2013
dbSNP: rs17507636
rs17507636
CTB-30L5.1
1 1.000 0.160 7 106650672 intron variant C/T snv 0.23 0.700 1.000 2 2016 2018
dbSNP: rs1994157
rs1994157
ULK4
1 1.000 0.160 3 41855990 intron variant G/A snv 0.18 0.700 1.000 2 2011 2013
dbSNP: rs2128835
rs2128835
ULK4
1 1.000 0.160 3 41821381 intron variant A/G snv 0.26 0.700 1.000 2 2011 2013
dbSNP: rs2390595
rs2390595
DNAH11
1 1.000 0.160 7 21875846 intron variant G/A;T snv 0.700 1.000 2 2011 2013
dbSNP: rs35469450
rs35469450
DNAH11
1 1.000 0.160 7 21899764 intron variant A/G snv 0.22 0.700 1.000 2 2011 2013
dbSNP: rs3774372
rs3774372
ULK4
4 1.000 0.160 3 41835922 missense variant T/C snv 0.17 0.18 0.700 1.000 2 2011 2013
dbSNP: rs4636103
rs4636103
DNAH11
1 1.000 0.160 7 21898370 intron variant C/G;T snv 0.33 0.700 1.000 2 2011 2013
dbSNP: rs6461614
rs6461614
DNAH11
1 1.000 0.160 7 21888909 intron variant T/C snv 0.54 0.700 1.000 2 2011 2013
dbSNP: rs6546183
rs6546183
DTNB
1 1.000 0.160 2 25448937 intron variant G/A;T snv 0.700 1.000 2 2011 2013
dbSNP: rs6949101
rs6949101
DNAH11
1 1.000 0.160 7 21890138 intron variant T/C snv 0.22 0.700 1.000 2 2011 2013
dbSNP: rs7971
rs7971
DNAH11 ; CDCA7L
2 0.925 0.200 7 21901342 3 prime UTR variant A/G snv 0.28 0.700 1.000 2 2011 2013
dbSNP: rs1006752
rs1006752
DTNB ; DTNB-AS1
1 1.000 0.160 2 25441122 intron variant C/T snv 0.12 0.700 1.000 1 2013 2013
dbSNP: rs1016669
rs1016669
ULK4
1 1.000 0.160 3 41852948 intron variant T/C snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs10180663
rs10180663
DTNB
1 1.000 0.160 2 25410373 intron variant T/A;C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs10212536
rs10212536
ULK4
1 1.000 0.160 3 41785534 intron variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs1023835002
rs1023835002
B2M ; PATL2
10 0.763 0.280 15 44711547 start lost A/G;T snv 0.700 1.000 1 2016 2016