Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 11
rs1114167422
SNORA56 ; DKC1
0.776 0.320 X 154773148 missense variant A/G snv 11
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 10
rs76992529
TTR
0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 10
rs1559810905
IFIH1
0.827 0.240 2 162273810 missense variant T/A snv 9
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 9
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 8
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 7
rs33950507
HBB
0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 7
rs1057516674
G6PC
0.882 0.160 17 42901026 frameshift variant GT/- del 5
rs878853314
GBA
0.882 0.240 1 155239655 missense variant C/G snv 5
rs878853315
GBA
0.925 0.160 1 155236292 missense variant G/C snv 5
rs121908117
ATRIP ; TREX1 ; ATRIP-TREX1
0.708 0.440 3 48466707 missense variant G/A snv 4
rs1057520529
FOXP3
0.851 0.320 X 49251440 missense variant C/T snv 4
rs747506979
GBA
0.882 0.160 1 155235003 missense variant G/A snv 1.2E-05 4
rs1060499688
GNPTAB
0.882 0.200 12 101753399 missense variant A/G snv 4
rs776035233
LCAT
0.882 0.120 16 67940230 missense variant C/T snv 4.0E-06 4
rs779114194
LCAT
0.925 0.120 16 67940017 missense variant T/C snv 1.4E-05 4
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 4
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 4
rs28940298
VHL
0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 4
rs104894816
GATA1
0.827 0.120 X 48792377 missense variant A/G snv 3
rs41469945
HBA2
0.925 0.080 16 173581 missense variant T/C;G snv 3
rs1050829
G6PD
0.827 0.160 X 154535277 missense variant T/A;C snv 1.7E-04; 2.6E-02 2
rs104894808
GATA1
0.851 0.120 X 48792376 missense variant G/T snv 2