Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4950928
CHI3L1
0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 1
rs45580035
BRCA2
0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05 8
rs397516896
BRAF
0.763 0.360 7 140753355 missense variant C/G;T snv 11
rs397516792
MAP2K1
0.827 0.280 15 66436825 missense variant C/A;G;T snv 6
rs397516790
MAP2K1
0.925 0.200 15 66435115 missense variant A/C;G snv 2
rs397514644
AKT1
0.925 0.040 14 104780190 missense variant G/A snv 7.0E-06 1
rs397514606
AKT3
0.763 0.320 1 243695714 missense variant C/T snv 1
rs397507484
BRAF
0.752 0.480 7 140753333 missense variant T/A;C;G snv 10
rs387906659
AKT2
0.742 0.280 19 40257052 stop gained C/A;T snv 1
rs387906410
CDKN2A
0.882 0.080 9 21971019 missense variant GC/AG mnv 2
rs36204594
CDKN2A
1.000 0.040 9 21971180 missense variant G/A;T snv 1
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 9
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 1
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 16
rs28931589
CTNNB1
0.695 0.240 3 41224613 missense variant G/A;C;T snv 13
rs28931588
CTNNB1
0.701 0.200 3 41224606 missense variant G/A;C;T snv 14
rs267601394
EZH2
0.807 0.200 7 148811635 missense variant T/A;G snv 3
rs267600971
CYP21A2 ; STK19 ; DXO
0.882 0.080 6 31972346 missense variant G/A snv 2
rs267599211
CNOT9
0.882 0.080 2 218584683 missense variant C/T snv 1
rs267599193
ERBB4
1.000 0.040 2 211713583 missense variant C/T snv 1
rs267599192
ERBB4
1.000 0.040 2 211673250 missense variant G/A snv 1
rs2066844
NOD2
0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 3
rs202247795
ERBB4
1.000 0.040 2 211702102 missense variant C/T snv 1
rs200375589
KIT
1.000 0.040 4 54727442 missense variant G/A;C;T snv 6.0E-05 2
rs193922219
FBN1
0.763 0.280 15 48446701 splice region variant C/A;T snv 9