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
rs7542665
L1TD1
0.790 0.080 1 62207365 missense variant T/C snv 0.63 0.67 9
rs1057941
GBAP1
0.701 0.280 1 155216951 non coding transcript exon variant G/A;T snv 0.46 18
rs12979278
MAMSTR
0.790 0.080 19 48715345 synonymous variant C/T snv 0.46 0.40 9
rs2070699
EDN1
0.752 0.080 6 12292539 intron variant G/C;T snv 0.45 9
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 1
rs3181245
TDP2
0.790 0.080 6 24651092 intron variant C/G snv 0.42 0.46 10
rs174533
MYRF ; TMEM258
0.763 0.160 11 61781553 intron variant G/A snv 0.37 0.29 18
rs10936599
MYNN
0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 18
rs2293581
GREM1 ; LOC100131315
0.776 0.080 15 32718535 5 prime UTR variant G/A;C snv 0.27 10
rs2293582
LOC100131315 ; GREM1
0.790 0.080 15 32718211 non coding transcript exon variant G/A snv 0.23 0.20 9
rs1566734
PTPRJ
0.807 0.120 11 48123823 missense variant A/C snv 0.17 0.15 2
rs4836891
OR1J2
0.790 0.080 9 122511295 missense variant G/A snv 9.8E-02 6.7E-02 9
rs16845107
CFAP44 ; CFAP44-AS1
0.790 0.080 3 113409144 missense variant C/A snv 7.2E-02 7.4E-02 9
rs11692435
ACTR1B
0.790 0.080 2 97658891 missense variant G/A snv 7.0E-02 6.7E-02 10
rs11727676
HHIP
0.776 0.080 4 144737912 synonymous variant T/C snv 6.6E-02 6.4E-02 14
rs72942485
BOC
0.776 0.080 3 113280713 intron variant G/A snv 2.7E-02 4.5E-02 10
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 21
rs11571818
BRCA2
0.708 0.280 13 32394673 intron variant T/C snv 6.6E-03 6.0E-03 17
rs1801166
APC
0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03 1
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 10
rs121913502
IDH2
0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 6
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 39
rs138729528
TP53
0.677 0.480 17 7675089 missense variant G/A;C snv 1.6E-05 25
rs121913343
TP53
0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 29