Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4684677
GHRLOS ; GHRL
0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02 1
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 1
rs775248597
ATM
0.851 0.120 11 108229185 stop gained C/G;T snv 8.1E-06 5
rs730881333
ATM
0.882 0.280 11 108243994 stop gained C/A;T snv 4.1E-06; 8.1E-06 1
rs772821016
ATM
0.882 0.320 11 108244873 stop gained C/T snv 4.0E-06 4
rs376603775
ATM
0.925 0.280 11 108304801 stop gained C/A;T snv 2.0E-05 3.5E-05 3
rs587779852
C11orf65 ; ATM
0.882 0.280 11 108312424 stop gained G/T snv 4.4E-05 3.5E-05 3
rs777741666
ATM ; C11orf65
0.925 0.080 11 108327759 splice donor variant G/A;T snv 3
rs28904921
C11orf65 ; ATM
0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05 7
rs769142993
ATM ; C11orf65
0.851 0.280 11 108331498 missense variant G/C;T snv 2.4E-05 7.0E-06 2
rs755009196
ATM ; C11orf65
0.925 0.160 11 108332024 missense variant C/G snv 1.6E-05 2.1E-05 3
rs587782652
ATM ; C11orf65
0.851 0.320 11 108335105 missense variant T/C snv 3.2E-05 4.2E-05 5
rs1805097
IRS2
0.689 0.360 13 109782884 missense variant C/G;T snv 0.35 1
rs1805076
PPP2R1B
0.851 0.120 11 111764842 missense variant C/T snv 6.5E-03 7.0E-03 1
rs2229992
APC
0.827 0.200 5 112827157 stop gained T/C;G snv 0.58 0.47 1
rs1143627
IL1B
0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 1
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 10
rs12255372
TCF7L2
0.667 0.480 10 113049143 intron variant G/A;T snv 1
rs56391007
MET
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03 2
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 4
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 1
rs2735940
TERT
0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49 1
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs2070744
NOS3
0.608 0.680 7 150992991 intron variant C/T snv 0.70 1