Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1114167628
PTEN
0.925 0.080 10 87961033 stop gained -/ATATCTAG delins 1
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs886040340
BRCA2
0.882 0.080 13 32319111 frameshift variant -/C delins 1
rs1565486028
ATM
11 108307917 frameshift variant -/G delins 1
rs878853941
PTEN
1.000 0.080 10 87952168 frameshift variant -/T delins 1
rs1565400045
ATM
11 108259050 frameshift variant A/- del 1
rs886041332
PTEN
10 87960962 frameshift variant A/- del 1
rs1064793929
TP53
0.882 0.280 17 7675167 frameshift variant A/-;AA delins 1
rs863225283
ALK
0.925 0.080 2 29213993 missense variant A/C snv 2
rs1057519697
ALK
0.776 0.120 2 29220830 missense variant A/C snv 1
rs1057519785
ALK
1.000 0.040 2 29222404 missense variant A/C snv 1
rs1057519820
MAP2K1
15 66436810 missense variant A/C snv 1
rs121918683
MYC ; CASC11
1.000 0.160 8 127738519 missense variant A/C snv 1
rs1566734
PTPRJ
0.807 0.120 11 48123823 missense variant A/C snv 0.17 0.15 1
rs267606841
GALNT3
0.882 0.120 2 165749801 missense variant A/C snv 1
rs386352352
PRKACA
0.851 0.080 19 14097604 missense variant A/C snv 1
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 12
rs78311289
FGFR3
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 9
rs121913512
KIT
0.851 0.120 4 54728055 missense variant A/C;G snv 6
rs587778967
EPM2AIP1 ; MLH1
0.925 0.200 3 36993548 start lost A/C;G snv 3
rs121913243
MET
0.827 0.160 7 116777410 missense variant A/C;G snv 1.2E-05 2
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 3
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs760043106
TP53
0.645 0.440 17 7674947 missense variant A/C;G;T snv 18