Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs202003805
PRSS1
0.827 0.120 7 142750561 missense variant C/T snv 9.0E-05 6
rs2070744
NOS3
0.608 0.680 7 150992991 intron variant C/T snv 0.70 54
rs2077647
ESR1
0.732 0.320 6 151807942 synonymous variant T/A;C snv 8.1E-06; 0.46 16
rs188957694
ESR1
0.882 0.080 6 151944218 missense variant G/A;C snv 4.0E-05 4.9E-05 6
rs796065354
ESR1
0.882 0.080 6 151944320 missense variant A/G snv 9
rs3798577
ESR1
0.742 0.320 6 152099995 3 prime UTR variant T/C snv 0.45 16
rs1418016570
PRKN
6 161973326 missense variant G/C snv 4.0E-06 1
rs6842
AGR2
7 16794973 missense variant A/G;T snv 0.43 0.38 1
rs1049074086
CTSD
0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06 9
rs351855
FGFR4
0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs1400966919
FGFR4
0.925 0.240 5 177096737 missense variant G/A snv 1.4E-05 3
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv 44
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 45
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 31
rs121913484
FGFR3
0.851 0.240 4 1804365 missense variant A/T snv 5
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv 18
rs28931615
FGFR3
0.732 0.240 4 1804426 missense variant C/A;T snv 13
rs587779383
FGFR3
0.851 0.120 4 1806157 missense variant A/C;G;T snv 5
rs78311289
FGFR3
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 25
rs121913480
FGFR3
1.000 0.120 4 1806604 missense variant G/T snv 2
rs486907
RNASEL
0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 32