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: rs201425733
rs201425733
ULK4
1 1.000 0.160 3 41901173 intron variant TTTTTTTTTTTTT/-;T;TT;TTT;TTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTT delins 0.700 1.000 1 2011 2011
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.080 0.750 8 2003 2019
dbSNP: rs116202370
rs116202370
ULK4
1 1.000 0.160 3 41866781 intron variant T/G snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs11919269
rs11919269
LRRC31
1 1.000 0.160 3 169856677 intron variant T/G snv 0.35 0.28 0.700 1.000 1 2013 2013
dbSNP: rs12158877
rs12158877
CBX7
1 1.000 0.160 22 39153421 upstream gene variant T/G snv 0.45 0.700 1.000 1 2013 2013
dbSNP: rs1607908
rs1607908
ULK4
1 1.000 0.160 3 41863704 intron variant T/G snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs1716985
rs1716985
ULK4
1 1.000 0.160 3 41927402 intron variant T/G snv 0.67 0.700 1.000 1 2011 2011
dbSNP: rs17214945
rs17214945
ULK4
1 1.000 0.160 3 41767168 intron variant T/G snv 0.12 0.700 1.000 1 2011 2011
dbSNP: rs2297480
rs2297480
FDPS
4 0.851 0.280 1 155309691 non coding transcript exon variant T/G snv 0.28 0.010 1.000 1 2011 2011
dbSNP: rs2683694
rs2683694
ULK4
1 1.000 0.160 3 41873882 intron variant T/G snv 0.39 0.700 1.000 1 2011 2011
dbSNP: rs59138513
rs59138513
ULK4
1 1.000 0.160 3 41867119 intron variant T/G snv 0.12 0.700 1.000 1 2011 2011
dbSNP: rs61283393
rs61283393
ULK4
1 1.000 0.160 3 41812643 intron variant T/G snv 0.12 0.700 1.000 1 2011 2011
dbSNP: rs6599176
rs6599176
ULK4
1 1.000 0.160 3 41747000 intron variant T/G snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs6948632
rs6948632
DNAH11
1 1.000 0.160 7 21889834 intron variant T/G snv 0.63 0.700 1.000 1 2011 2011
dbSNP: rs73069357
rs73069357
ULK4
1 1.000 0.160 3 41711827 intron variant T/G snv 0.12 0.700 1.000 1 2011 2011
dbSNP: rs73071325
rs73071325
ULK4
1 1.000 0.160 3 41768497 intron variant T/G snv 0.12 0.700 1.000 1 2011 2011
dbSNP: rs73071330
rs73071330
ULK4
1 1.000 0.160 3 41769061 intron variant T/G snv 0.12 0.700 1.000 1 2011 2011
dbSNP: rs7629767
rs7629767 		1 1.000 0.160 3 42002017 intergenic variant T/G snv 0.16 0.700 1.000 1 2013 2013
dbSNP: rs7650227
rs7650227
ULK4
1 1.000 0.160 3 41753445 intron variant T/G snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs9372120
rs9372120
ATG5
5 0.851 0.280 6 106219660 intron variant T/G snv 0.16 0.700 1.000 1 2016 2016
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: rs1057519879
rs1057519879
B2M ; PATL2
10 0.763 0.280 15 44711548 start lost T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs111634789
rs111634789
ULK4
1 1.000 0.160 3 41829864 intron variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs12186109
rs12186109
ULK4
1 1.000 0.160 3 41795428 intron variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs121913370
rs121913370
BRAF
10 0.763 0.360 7 140753393 missense variant T/C;G snv 0.700 1.000 1 2016 2016