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: rs73071328
rs73071328
ULK4
1 1.000 0.160 3 41768563 intron variant A/C snv 0.12 0.700 1.000 1 2011 2011
dbSNP: rs73073342
rs73073342
ULK4
1 1.000 0.160 3 41797963 intron variant A/C snv 0.12 0.700 1.000 1 2011 2011
dbSNP: rs73079307
rs73079307
ULK4
1 1.000 0.160 3 41820781 intron variant A/C snv 0.12 0.700 1.000 1 2011 2011
dbSNP: rs75341503
rs75341503
DNAH11
1 1.000 0.160 7 21897080 intron variant A/C snv 0.26 0.700 1.000 1 2011 2011
dbSNP: rs77778906
rs77778906
ULK4
1 1.000 0.160 3 41904120 intron variant A/C snv 0.12 0.700 1.000 1 2011 2011
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: rs10212536
rs10212536
ULK4
1 1.000 0.160 3 41785534 intron variant A/C;G snv 0.700 1.000 1 2011 2011
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: rs12185908
rs12185908
ULK4
1 1.000 0.160 3 41793000 intron variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs17284313
rs17284313
ULK4
1 1.000 0.160 3 41945295 intron variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 1.000 1 2007 2007
dbSNP: rs2228055
rs2228055
IL10RA
4 0.851 0.280 11 117994131 missense variant A/C;G snv 8.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs6768972
rs6768972
CRBN
2 1.000 0.160 3 3180101 upstream gene variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs73830516
rs73830516
ULK4
1 1.000 0.160 3 41834564 intron variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs7649989
rs7649989
ULK4
1 1.000 0.160 3 41824351 intron variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs80066790
rs80066790
ULK4
1 1.000 0.160 3 41959351 intron variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs9847975
rs9847975
ULK4
1 1.000 0.160 3 41745412 intron variant A/C;G snv 0.700 1.000 1 2011 2011
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: rs1057519978
rs1057519978
TP53
12 0.763 0.360 17 7675191 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519981
rs1057519981
TP53
22 0.689 0.440 17 7674251 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121918465
rs121918465
PTPN11
7 0.827 0.200 12 112450407 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1716651
rs1716651
ULK4
1 1.000 0.160 3 41933607 intron variant A/C;G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs3134603
rs3134603
PPT2 ; PPT2-EGFL8
4 0.851 0.360 6 32158225 non coding transcript exon variant A/C;G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs3821383
rs3821383
MYNN
2 1.000 0.160 3 169772158 upstream gene variant A/C;G;T snv 0.700 1.000 1 2013 2013