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: 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
dbSNP: rs1025646
rs1025646
ULK4
1 1.000 0.160 3 41712930 intron variant A/T snv 0.26 0.700 1.000 1 2011 2011
dbSNP: rs1034447
rs1034447
LOC105378110
1 1.000 0.160 6 164192425 intergenic variant C/T snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2012 2017
dbSNP: rs10452020
rs10452020
ULK4
1 1.000 0.160 3 41774459 intron variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs10452022
rs10452022
ULK4
1 1.000 0.160 3 41774550 intron variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs1045433
rs1045433
TRNT1 ; CRBN
1 1.000 0.160 3 3149742 non coding transcript exon variant T/C snv 0.15 0.010 1.000 1 2016 2016
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.060 0.833 6 2009 2019
dbSNP: rs10485986
rs10485986
DNAH11
1 1.000 0.160 7 21867059 intron variant C/T snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
29 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894231
rs104894231
HRAS ; LRRC56
9 0.776 0.360 11 533467 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894340
rs104894340
CDK4
5 0.827 0.200 12 57751647 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894419
rs104894419
LIG4
8 0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 0.700 0
dbSNP: rs1049623
rs1049623
DDR1
2 0.925 0.200 6 30897052 synonymous variant T/C snv 0.47 0.43 0.010 1.000 1 2017 2017
dbSNP: rs1049633
rs1049633
DDR1
1 1.000 0.160 6 30899750 3 prime UTR variant G/A snv 7.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs10509328
rs10509328
LOC105378351
1 1.000 0.160 10 71007652 intron variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs1050976
rs1050976
IRF4
4 0.851 0.280 6 408079 3 prime UTR variant C/T snv 0.37 0.700 1.000 1 2018 2018
dbSNP: rs10510729
rs10510729
ULK4
1 1.000 0.160 3 41790506 intron variant G/A snv 0.12 0.700 1.000 1 2011 2011