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: rs121913368
rs121913368
2 0.925 0.040 7 140753345 missense variant AG/GA mnv 0.710 1.000 13 2002 2018
dbSNP: rs1057519731
rs1057519731
2 0.925 0.040 15 66436816 missense variant G/C snv 0.720 1.000 5 2011 2014
dbSNP: rs45430
rs45430
MX2
1 1.000 0.040 21 41374154 intron variant C/T snv 0.48 0.820 1.000 4 2011 2019
dbSNP: rs1057519708
rs1057519708
KIT
2 1.000 0.040 4 54728096 missense variant T/A;G snv 0.700 1.000 3 2011 2014
dbSNP: rs1057519733
rs1057519733
1 1.000 0.040 15 66481793 missense variant G/A snv 0.700 1.000 3 2009 2013
dbSNP: rs121913248
rs121913248
1 1.000 0.040 1 114716109 missense variant C/G;T snv 4.0E-06 0.710 1.000 3 2001 2014
dbSNP: rs4911442
rs4911442
2 1.000 0.040 20 34767243 intron variant G/A snv 0.93 0.720 1.000 3 2008 2014
dbSNP: rs1024708183
rs1024708183
4 0.925 0.040 19 7909761 missense variant A/G snv 0.020 1.000 2 2005 2015
dbSNP: rs1057519703
rs1057519703
KIT
1 1.000 0.040 4 54727418 missense variant A/C;T snv 0.700 1.000 2 2014 2014
dbSNP: rs1057519705
rs1057519705
KIT
1 1.000 0.040 4 54727464 missense variant A/G snv 0.700 1.000 2 2014 2014
dbSNP: rs1057519706
rs1057519706
KIT
1 1.000 0.040 4 54727474 missense variant T/G snv 0.700 1.000 2 2014 2014
dbSNP: rs1057519730
rs1057519730
2 1.000 0.040 15 66436786 missense variant T/A;G snv 0.700 1.000 2 2011 2012
dbSNP: rs1057519734
rs1057519734
1 1.000 0.040 15 66485086 missense variant C/T snv 0.700 1.000 2 2011 2012
dbSNP: rs1057519805
rs1057519805
3 1.000 0.040 15 66436839 missense variant T/C snv 0.700 1.000 2 2009 2013
dbSNP: rs1057519807
rs1057519807
1 1.000 0.040 19 4110586 missense variant A/T snv 0.710 1.000 2 2014 2014
dbSNP: rs1057519808
rs1057519808
2 1.000 0.040 19 4117543 missense variant T/G snv 0.710 1.000 2 2013 2014
dbSNP: rs1057519856
rs1057519856
2 0.925 0.040 15 66436815 missense variant T/A snv 0.020 1.000 2 2014 2014
dbSNP: rs11547464
rs11547464
2 1.000 0.040 16 89919683 missense variant G/A snv 5.3E-03 4.7E-03 0.020 1.000 2 2006 2011
dbSNP: rs11551405
rs11551405
1 1.000 0.040 3 53284850 3 prime UTR variant C/A snv 0.16 0.020 1.000 2 2016 2018
dbSNP: rs121913363
rs121913363
1 1.000 0.040 7 140753361 missense variant T/C snv 0.700 1.000 2 2014 2015
dbSNP: rs121913371
rs121913371
3 1.000 0.040 7 140781678 missense variant G/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 2 2007 2014
dbSNP: rs121913388
rs121913388
2 0.925 0.040 9 21971121 stop gained G/A;C snv 4.4E-06 0.700 1.000 2 2011 2014
dbSNP: rs121913523
rs121913523
KIT
2 1.000 0.040 4 54728092 missense variant T/A;C snv 0.700 1.000 2 2011 2012
dbSNP: rs1278609613
rs1278609613
1 1.000 0.040 4 147542604 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 8.0E-06 0.020 1.000 2 2009 2018
dbSNP: rs1335510
rs1335510
1 1.000 0.040 9 21757804 intergenic variant T/G snv 0.32 0.710 1.000 2 2012 2015