Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 9
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 8
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 10
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 3
rs1800872
IL19 ; IL10
0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 1
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 1
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 1
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 18
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 3
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 1
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 39
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 34
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 36
rs7574865
STAT4
0.574 0.720 2 191099907 intron variant T/G snv 0.79 1
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 11
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 2
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 4
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 42
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 12
rs351855
FGFR4
0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 1
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 37