Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1329443726
CDKN2A
1.000 0.080 9 21971097 frameshift variant C/- delins 1
rs1475218156
CDKN2B ; CDKN2B-AS1
1.000 0.080 9 22006096 missense variant C/G;T snv 4.2E-06; 8.4E-06 1
rs1568234664
DNMT1
1.000 0.080 19 10154774 splice acceptor variant C/A snv 1
rs587776563
NF2
1.000 0.080 22 29668440 frameshift variant A/- delins 1
rs121434259
NF2
0.925 0.160 22 29636805 stop gained C/T snv 2
rs202247756
SUFU
1.000 0.080 10 102550019 missense variant C/T snv 2
rs2686876 0.882 0.080 11 258909 intergenic variant T/A;C snv 3
rs768803947
TP53
0.882 0.080 17 7670624 missense variant C/A;T snv 4.0E-06; 4.0E-06 3
rs7574920
XDH
0.882 0.080 2 31362783 intron variant G/C snv 0.42 3
rs12770228
MIR1915HG
0.882 0.080 10 21494705 non coding transcript exon variant G/A snv 0.24 4
rs3219466
MUTYH ; TOE1
0.851 0.080 1 45340381 5 prime UTR variant G/A;T snv 4
rs121918347
SMO
0.851 0.080 7 129210500 missense variant G/T snv 4
rs267606541
AIP
0.827 0.160 11 67487147 stop gained C/T snv 5
rs11012732
MLLT10
0.882 0.080 10 21541175 intron variant A/G snv 0.31 5
rs699473
SOD3
0.827 0.160 4 24795181 intron variant C/T snv 0.54 5
rs1243180
MLLT10
0.790 0.160 10 21626690 intron variant T/A snv 0.23 7
rs9420907
STN1
0.790 0.320 10 103916707 intron variant C/A;G snv 7
rs730882035
VHL
0.807 0.200 3 10149805 missense variant G/A snv 7
rs1035938
BICRA
0.776 0.120 19 47680514 missense variant C/G;T snv 0.29 8
rs25406
PCNA-AS1 ; PCNA
0.807 0.120 20 5118990 intron variant G/A snv 0.41 8
rs4968451
BRIP1
0.732 0.160 17 61849946 intron variant A/C snv 0.15 13
rs150766139
NTHL1 ; TSC2
0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 13
rs603965
CCND1
0.732 0.440 11 69648142 splice region variant G/A snv 14
rs2235544
DIO1
0.742 0.240 1 53909897 intron variant C/A;T snv 0.53; 4.0E-06 14
rs1800067
ERCC4
0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02 17