Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs876658923
EPM2AIP1 ; MLH1
1.000 0.120 3 36993593 frameshift variant TGAACCG/- delins 1
rs587778883
MLH1
0.807 0.200 3 37025648 frameshift variant A/- del 1
rs202003805
PRSS1
0.827 0.120 7 142750561 missense variant C/T snv 9.0E-05 1
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 2
rs1057519958
RXRA
0.851 0.200 9 134436505 missense variant C/A;T snv 3
rs1057519910
MAP2K2
0.851 0.160 19 4117551 missense variant A/C;T snv 4
rs1057519912
MED12
0.776 0.200 X 71129408 missense variant C/G;T snv 5
rs1057519919
MYCNOS ; MYCN
0.851 0.160 2 15942195 missense variant C/T snv 5
rs1057519943
POLE
0.790 0.160 12 132676598 missense variant G/C;T snv 5
rs1057519944
POLE
0.882 0.160 12 132676599 missense variant G/A snv 5
rs121434498
MAP2K2
0.807 0.280 19 4117553 missense variant A/C;G;T snv 6
rs1057519962
SMAD4
0.827 0.160 18 51067035 missense variant G/A;T snv 6
rs1057519882
CDKN2A
0.807 0.200 9 21974678 missense variant C/A snv 7
rs1057519738
MIR4728 ; ERBB2
0.790 0.160 17 39725079 missense variant G/A snv 4.0E-06 7
rs1057519960
SF3B2
0.827 0.280 11 66063413 missense variant A/G snv 7
rs121912580
SMAD4
0.807 0.280 18 51067036 missense variant G/A;C;T snv 7
rs876659675
TP53
0.807 0.280 17 7674199 missense variant A/C;G;T snv 7
rs1057519881
CDKN2A
0.776 0.240 9 21971111 missense variant T/C snv 8
rs121913385
CDKN2A
0.763 0.240 9 21971112 missense variant G/A;C snv 8
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 8
rs587782703
SDHB
0.807 0.160 1 17053947 splice donor variant C/A;T snv 1.2E-05; 4.1E-06 8
rs1057519995
TP53
0.807 0.240 17 7674200 missense variant T/A snv 8
rs34968276
CDKN2A
0.776 0.240 9 21971110 stop gained G/A;C;T snv 9
rs121913413
CTNNB1
0.763 0.240 3 41224634 missense variant C/A;T snv 9
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 9