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: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.770 0.875 8 2003 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.080 0.750 8 2003 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.070 0.857 7 2003 2019
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: rs121913485
rs121913485
FGFR3
18 0.716 0.400 4 1804372 missense variant A/G snv 0.040 0.750 4 2001 2011
dbSNP: rs4487645
rs4487645
DNAH11
3 0.882 0.200 7 21898622 intron variant C/A;T snv 0.810 1.000 4 2011 2014
dbSNP: rs1052501
rs1052501
ULK4
2 0.925 0.160 3 41883906 missense variant C/G;T snv 0.80 0.810 1.000 3 2011 2014
dbSNP: rs6746082
rs6746082
DTNB ; DTNB-AS1
1 1.000 0.160 2 25436375 intron variant A/C;T snv 0.810 1.000 3 2011 2014
dbSNP: rs78311289
rs78311289
FGFR3
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.730 1.000 3 2000 2011
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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2012 2017
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: rs139371
rs139371
CBX7
1 1.000 0.160 22 39123191 intron variant T/C;G snv 0.800 1.000 2 2013 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: rs2390595
rs2390595
DNAH11
1 1.000 0.160 7 21875846 intron variant G/A;T snv 0.700 1.000 2 2011 2013
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: rs6546183
rs6546183
DTNB
1 1.000 0.160 2 25448937 intron variant G/A;T snv 0.700 1.000 2 2011 2013
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2012 2017
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: 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: 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