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: rs1085308039
rs1085308039
PTEN
6 0.925 0.080 10 87933075 stop gained G/T snv 0.700 0
dbSNP: rs121909218
rs121909218
PTEN
25 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
dbSNP: rs121913294
rs121913294
PTEN
14 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs121918457
rs121918457
PTPN11
24 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs137852814
rs137852814
SOS1
16 0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 0.700 0
dbSNP: rs398123316
rs398123316
PTEN
9 0.851 0.160 10 87925530 missense variant A/G;T snv 0.700 0
dbSNP: rs3731249
rs3731249
CDKN2A
23 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.010 < 0.001 1 2002 2002
dbSNP: rs121913338
rs121913338
BRAF
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.010 1.000 1 2004 2004
dbSNP: rs1805006
rs1805006
MC1R
8 0.790 0.080 16 89919510 missense variant C/A;G snv 5.2E-03; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs755660650
rs755660650
SLCO6A1
5 0.827 0.120 5 102498596 missense variant G/C snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs10757236
rs10757236
LOC107987026
1 1.000 0.040 9 21715891 intergenic variant G/C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs10811595
rs10811595
LOC107987026
1 1.000 0.040 9 21715802 intergenic variant T/A;G snv 0.700 1.000 1 2009 2009
dbSNP: rs10811625
rs10811625
MTAP
1 1.000 0.040 9 21826841 intron variant G/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs10965135
rs10965135 		1 1.000 0.040 9 21789581 TF binding site variant C/T snv 0.35 0.700 1.000 1 2009 2009
dbSNP: rs10965144
rs10965144
MTAP
1 1.000 0.040 9 21808914 5 prime UTR variant C/T snv 0.36 0.700 1.000 1 2009 2009
dbSNP: rs132941
rs132941
PLA2G6
1 1.000 0.040 22 38149935 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs2284063
rs2284063
PLA2G6
4 0.851 0.160 22 38148291 non coding transcript exon variant A/G snv 0.40 0.800 1.000 1 2009 2009
dbSNP: rs3900787
rs3900787
MTAP
1 1.000 0.040 9 21828111 intron variant A/C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs3922992
rs3922992
MTAP
1 1.000 0.040 9 21827407 intron variant A/G snv 0.34 0.700 1.000 1 2009 2009
dbSNP: rs3927737
rs3927737
MTAP
1 1.000 0.040 9 21827993 intron variant G/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs4608623
rs4608623
PLA2G6 ; MAFF
2 0.925 0.040 22 38201371 non coding transcript exon variant G/T snv 0.52 0.700 1.000 1 2009 2009
dbSNP: rs4636294
rs4636294
LOC107987026
2 0.925 0.040 9 21747804 intergenic variant A/G snv 0.61 0.800 1.000 1 2009 2009
dbSNP: rs4821767
rs4821767 		1 1.000 0.040 22 38218122 upstream gene variant C/A snv 0.44 0.700 1.000 1 2009 2009
dbSNP: rs6475555
rs6475555
LOC107987026
1 1.000 0.040 9 21716998 intergenic variant A/C;G snv 0.58 0.700 1.000 1 2009 2009
dbSNP: rs7023954
rs7023954
MTAP
2 0.925 0.040 9 21816759 missense variant G/A snv 0.40 0.42 0.700 1.000 1 2009 2009