Source: ALL
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-02 262
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs113993959
CFTR
0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 25
rs75527207
CFTR
0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 15
rs77010898
CFTR
0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 13
rs7512462
SLC26A9
0.882 0.200 1 205930467 intron variant T/C snv 0.38 4
rs17563161
SLC9A3
0.882 0.040 5 497509 intron variant G/A snv 0.18 4
rs146521846
CFTR
0.925 0.120 7 117611794 missense variant C/G;T snv 4.0E-06; 1.2E-05 2
rs397508185
CFTR ; CFTR-AS1
0.925 0.120 7 117548684 missense variant A/G snv 2.8E-05 2.8E-05 2
rs2734705
CLCA1
0.925 0.120 1 86486641 missense variant A/G snv 0.86 0.87 2
rs3788766
SLC6A14
1.000 0.040 X 116435671 upstream gene variant G/A snv 2
rs587784572
C12orf60 ; GUCY2C
1.000 0.040 12 14641142 missense variant C/T snv 3.2E-05 4.2E-05 1
rs587784573
C12orf60 ; GUCY2C ; PLBD1-AS1
1.000 0.040 12 14619304 missense variant A/G snv 1
rs587776905
GUCY2C ; C12orf60
1.000 0.040 12 14672883 missense variant T/C snv 4.0E-06 1
rs730880325
GUCY2C ; C12orf60
1.000 0.040 12 14625894 frameshift variant -/T delins 4.0E-06 7.0E-06 1