Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121912665
TP53
1.000 0.120 17 7674965 missense variant G/A snv 2.4E-05 7.0E-06 7
rs13438494
PCLO
1.000 0.040 7 82759398 intron variant T/G snv 0.61 6
rs768824654
MSH2
1.000 0.120 2 47403390 start lost A/G snv 7.0E-06 6
rs121913516
KIT
1.000 0.080 4 54729353 missense variant C/T snv 4.0E-06 6
rs786202567
PMS2
1.000 0.120 7 5992027 missense variant T/A;C snv 4.0E-06 1.4E-05 5
rs773647920
MLH1
1.000 0.120 3 37001037 start lost A/G snv 2.4E-04 3.5E-05 5
rs35690297
PMS2
1.000 0.120 7 6002584 start lost T/A;C snv 5
rs2278426
ANGPTL8 ; DOCK6
1.000 0.080 19 11239812 missense variant C/T snv 0.11 0.11 5
rs4719714
STEAP1B
1.000 0.080 7 22721094 intron variant A/T snv 0.21 5
rs2053044
ADRB2
1.000 0.040 5 148825809 5 prime UTR variant A/G snv 0.59 5
rs1057519696
ALK
1.000 0.040 2 29214054 missense variant C/T snv 4
rs751144688
CD44
1.000 0.080 11 35206195 missense variant C/T snv 4.0E-06 4
rs279826
GABRA2
1.000 0.080 4 46332192 intron variant A/G snv 0.46 4
rs3755166
LRP2
1.000 0.080 2 169363371 upstream gene variant A/C;G snv 4
rs4822492
ADORA2A-AS1
1.000 0.040 22 24447626 intron variant C/G snv 0.47 4
rs3761422
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
1.000 0.040 22 24430704 intron variant T/C snv 0.62 4
rs1133503
MANEA
1.000 0.040 6 95606712 3 prime UTR variant C/G;T snv 4
rs199473648
LOC105372791 ; KCNE2
1.000 0.080 21 34370507 missense variant C/T snv 2.5E-04 2.4E-04 4
rs200484060
DSG2
1.000 18 31536370 missense variant T/G snv 5.6E-05 1.4E-05 4
rs267606695
CA8
1.000 0.160 8 60266044 missense variant A/C;G snv 4
rs11600996
ARNTL
1.000 0.040 11 13374619 intron variant T/C snv 0.40 4
rs4642
ITGB3
1.000 0.080 17 47292411 synonymous variant A/G snv 0.29 0.29 4
rs779530981
PTEN
1.000 0.160 10 87933035 missense variant C/A snv 4
rs13058338
RAC2
1.000 0.040 22 37236730 intron variant T/A;G snv 4
rs121912679
ACVR1
1.000 0.040 2 157761077 missense variant C/T snv 4