Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2293479
AP4M1
1.000 0.080 7 100106335 intron variant T/C;G snv 0.29; 4.0E-06 1
rs4727449
STAG3 ; CASTOR3
1.000 0.080 7 100188127 intron variant C/T snv 0.11 1
rs866500
CASTOR3
1.000 0.080 7 100242838 intron variant A/G;T snv 1
rs858502
CASTOR3
1.000 0.080 7 100245730 intron variant T/C snv 0.50 1
rs35305377
STAG3L5P ; PMS2P1 ; STAG3L5P-PVRIG2P-PILRB
1.000 0.080 7 100341332 intron variant G/A snv 0.56 1
rs2289506
NIT2
1.000 0.080 3 100346058 non coding transcript exon variant C/T snv 0.24 1
rs1859788
PILRA
0.925 0.080 7 100374211 missense variant A/C;G snv 4.0E-06; 0.65 3
rs374019283
FANCD2
0.882 0.200 3 10039759 synonymous variant T/C snv 4.0E-05 2.2E-04 5
rs1476679
ZCWPW1
0.925 0.080 7 100406823 intron variant C/A;T snv 4.0E-06; 0.74 2
rs4807399
GRIN3B
1.000 0.080 19 1004711 missense variant C/T snv 0.44 0.46 1
rs865862446
FANCD2
0.882 0.200 3 10049416 missense variant G/A snv 5
rs2240158
GRIN3B
0.925 0.120 19 1005231 missense variant C/T snv 0.36 0.41 2
rs117969561
GGACT
1.000 0.080 13 100558935 intron variant C/T snv 2.5E-02 1
rs2734897
AGFG2
1.000 0.080 7 100561944 intron variant A/G snv 0.74 1
rs714873 0.882 0.200 4 10057994 upstream gene variant G/A snv 0.74 4
rs5966709
TNMD
1.000 0.080 X 100589509 intron variant G/T snv 0.40 1
rs6834555 0.882 0.200 4 10060702 regulatory region variant G/A snv 0.74 4
rs747604554
FANCD2
1.000 0.080 3 10065441 frameshift variant TT/- delins 4.0E-06 1
rs2970989 1.000 0.080 2 100697607 intergenic variant T/G snv 0.18 1
rs1513625 1.000 0.080 2 100698011 intergenic variant G/A;T snv 1
rs1399439
ANO4
1.000 0.080 12 100827461 intron variant A/G snv 3.7E-02 1
rs751236171
UFSP1 ; ACHE
1.000 0.080 7 100891280 missense variant C/T snv 1.7E-05 1
rs964917
YWHAZ
1.000 0.080 8 100925227 intron variant T/C snv 0.55 1
rs983583
YWHAZ
0.925 0.080 8 100949682 intron variant T/C snv 0.66 2
rs2227631
SERPINE1
0.742 0.200 7 101126257 upstream gene variant A/G snv 0.54 13