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: rs1057519713
rs1057519713
KIT
3 0.925 0.120 4 54736498 missense variant G/C snv 0.700 1.000 1 2013 2013
dbSNP: rs1057519728
rs1057519728
MAP2K1
5 0.851 0.120 15 66435103 missense variant T/A;C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs1057519735
rs1057519735
MAP2K1 ; SNAPC5
1 1.000 0.040 15 66490577 missense variant A/C snv 0.700 1.000 1 2011 2011
dbSNP: rs1057519804
rs1057519804
AKT1
2 1.000 0.040 14 104776711 missense variant G/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519806
rs1057519806
MAP2K2
3 0.882 0.200 19 4110583 missense variant T/C snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519809
rs1057519809
MAP2K2
1 1.000 0.040 19 4117586 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs1057519810
rs1057519810
MAP2K2
1 1.000 0.040 19 4117619 missense variant C/A;T snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs1057519811
rs1057519811
PDGFRA
1 1.000 0.040 4 54274916 missense variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs1057519812
rs1057519812
PDGFRA
1 1.000 0.040 4 54277977 missense variant T/C snv 0.700 1.000 1 2013 2013
dbSNP: rs1057519813
rs1057519813
PDGFRA
1 1.000 0.040 4 54285923 missense variant G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs1057519814
rs1057519814
PDGFRA
1 1.000 0.040 4 54285934 missense variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs1057519815
rs1057519815
RAF1
1 1.000 0.040 3 12599696 missense variant C/G snv 0.700 1.000 1 2013 2013
dbSNP: rs1057519837
rs1057519837
CTNNB1
2 1.000 0.040 3 41224631 missense variant C/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs10739221
rs10739221
LINC01505
5 0.851 0.080 9 106298549 intron variant T/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs10852628
rs10852628
DBNDD1
1 1.000 0.040 16 90013519 intron variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs10931936
rs10931936
CASP8
6 0.827 0.120 2 201279205 intron variant T/C snv 0.72 0.700 1.000 1 2011 2011
dbSNP: rs11076650
rs11076650
AFG3L1P
1 1.000 0.040 16 90001533 non coding transcript exon variant G/A snv 0.49 0.700 1.000 1 2011 2011
dbSNP: rs11263498
rs11263498 		1 1.000 0.040 11 69567999 TF binding site variant T/C snv 0.51 0.700 1.000 1 2011 2011
dbSNP: rs1129038
rs1129038
HERC2
8 0.851 0.120 15 28111713 3 prime UTR variant C/T snv 0.49 0.50 0.700 1.000 1 2011 2011
dbSNP: rs11648898
rs11648898
AFG3L1P
1 1.000 0.040 16 89979578 non coding transcript exon variant A/G snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs1204552
rs1204552
NORAD
2 1.000 0.040 20 36050981 non coding transcript exon variant T/A;C;G snv 0.700 1.000 1 2008 2008
dbSNP: rs121908596
rs121908596
MAP2K1
7 0.807 0.240 15 66436837 missense variant G/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs121913225
rs121913225
BRAF
1 1.000 0.040 7 140753351 missense variant A/G snv 0.700 1.000 1 2014 2014
dbSNP: rs121913226
rs121913226
BRAF
1 1.000 0.040 7 140753332 inframe deletion TTT/- del 0.700 1.000 1 2014 2014
dbSNP: rs121913341
rs121913341
BRAF
5 0.851 0.280 7 140753350 missense variant A/C;T snv 0.700 1.000 1 2014 2014