Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs28362491
LOC105377621 ; NFKB1
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs775144154
SLC19A1
0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 38
rs6165
FSHR
0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 14
rs2227956
HSPA1L
0.752 0.400 6 31810495 missense variant G/A;C;T snv 0.87 12
rs1550117
DNMT3A
0.790 0.320 2 25343038 upstream gene variant A/G;T snv 11
rs28939068
CST3
0.790 0.200 20 23635330 missense variant A/T snv 9
rs2292596
AHRR
0.827 0.240 5 422840 missense variant C/G;T snv 0.38; 4.0E-06 7
rs1061581
HSPA1A ; HSPA1L
0.827 0.200 6 31816809 synonymous variant G/A snv 6
rs7354779
DNMT3L ; DNMT3L-AS1
0.827 0.200 21 44250887 missense variant T/C snv 0.21 6
rs121918346
DAZL
0.882 0.040 3 16598169 missense variant T/C;G snv 8.0E-06 5
rs12097821 0.882 0.040 1 106793679 regulatory region variant G/A;T snv 4
rs1569167515
POLR2F ; SOX10
0.925 0.200 22 37973567 inframe deletion CTGGGGTCAGAGATG/- delins 4
rs17115149
CYP17A1
0.882 0.160 10 102837961 upstream gene variant G/A;T snv 4
rs184752888
BRD2
0.882 0.120 6 32977847 missense variant G/A snv 4
rs10459953
NOS2
0.925 0.080 17 27800492 5 prime UTR variant C/A;G;T snv 3
rs1059060
PMS2
0.925 0.040 7 5977709 missense variant T/A;C snv 3
rs11204546
OR2W3
0.925 0.040 1 247896410 missense variant T/C;G snv 0.58; 4.0E-06 3
rs139524801
AR
0.925 0.160 X 67643283 missense variant G/A;T snv 1.8E-04 3