Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1675126
INCENP
0.925 0.080 11 62138902 synonymous variant T/C snv 0.84 0.88 3
rs2306969
LOC101928844 ; FUT3
0.925 0.040 19 5851790 intron variant A/G snv 0.76 4
rs11895168
ERBB4
0.925 0.080 2 211377467 3 prime UTR variant A/C snv 0.68 4
rs3803662
CASC16
0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 25
rs1972820
ERBB4
0.925 0.080 2 211378697 3 prime UTR variant G/A snv 0.63 3
rs1704754
HSD17B7
1 162790761 5 prime UTR variant C/T snv 0.70 0.62 1
rs228648
UTS2
0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52 13
rs1058808
ERBB2
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 27
rs7984952
USPL1
13 30657669 missense variant T/C snv 0.41 0.51 2
rs1056892
CBR3-AS1 ; CBR3
0.882 0.160 21 36146408 missense variant G/A snv 0.37 0.39 6
rs2787486
STXBP4
0.925 0.080 17 55132413 intron variant A/C snv 0.33 3
rs10941679 0.763 0.120 5 44706396 intergenic variant A/G snv 0.25 11
rs4784227
CASC16
0.807 0.160 16 52565276 intron variant C/T snv 0.20 8
rs17506395
TP63
0.925 0.080 3 189803530 intron variant T/G snv 0.19 3
rs1801725
CASR
0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 39
rs35490896
CLSPN
0.925 0.080 1 35736984 missense variant G/A snv 5.5E-02 6.5E-02 3
rs56391007
MET
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03 16
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs138213197
HOXB13
0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 24
rs146312682
LIMD1
3 45595642 missense variant A/C snv 8.6E-04 7.7E-04 1
rs137853011
CHEK2
0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 16
rs80359550
BRCA2
0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04 8
rs747489687
MCPH1
0.925 0.080 8 6444626 frameshift variant AAGAAATATTGCA/- delins 2.3E-04 1.0E-04 4
rs28904921
C11orf65 ; ATM
0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05 12
rs80359212
BRCA2
0.763 0.320 13 32394814 stop gained C/T snv 1.2E-05 4.2E-05 11