Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3184504
SH2B3 ; ATXN2
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 73
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 37
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 34
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs7679673 0.677 0.440 4 105140377 intron variant C/A snv 0.50 25
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv 25
rs104894226
LRRC56 ; HRAS
0.658 0.560 11 534285 missense variant C/A;G;T snv 23
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs1535
FADS2
0.752 0.240 11 61830500 intron variant A/G snv 0.31 22
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 21
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 21
rs115707823 0.701 0.320 6 30374976 intergenic variant G/A snv 19
rs7931342 0.689 0.360 11 69227030 intergenic variant T/G snv 0.58 19
rs597808
ATXN2
0.742 0.200 12 111535554 intron variant A/G snv 0.67 19
rs7903146
TCF7L2
0.554 0.680 10 112998590 intron variant C/G;T snv 19
rs4808075
BABAM1 ; USHBP1
0.701 0.280 19 17279482 intron variant T/C snv 0.26 18
rs1011970
CDKN2B-AS1
0.677 0.320 9 22062135 intron variant G/T snv 0.23 18
rs56084662
FRY
0.701 0.280 13 32295727 3 prime UTR variant G/A snv 3.5E-03 18
rs1057941
GBAP1
0.701 0.280 1 155216951 non coding transcript exon variant G/A;T snv 0.46 18
rs10936599
MYNN
0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 18
rs174533
MYRF ; TMEM258
0.763 0.160 11 61781553 intron variant G/A snv 0.37 0.29 18
rs760043106
TP53
0.645 0.440 17 7674947 missense variant A/C;G;T snv 18
rs11907546 0.708 0.280 20 34131991 upstream gene variant C/A;T snv 17
rs141752671 0.708 0.280 11 103745837 intron variant A/G snv 5.4E-03 17
rs147527678 0.708 0.280 6 32699696 intergenic variant G/A;C snv 17