Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs9332967
SRD5A2
0.790 0.200 2 31526224 missense variant C/T snv 2.3E-04 1.1E-04 7
rs119481075
HSD17B3
0.882 0.240 9 96254906 missense variant C/T snv 8.8E-05 8.4E-05 4
rs119481077
HSD17B3
0.882 0.240 9 96254907 missense variant G/A snv 3.2E-05 7.0E-06 3
rs747724352
HSD17B3
0.925 0.240 9 96251474 missense variant C/T snv 2.0E-05 3
rs757033996
HSD3B2
0.882 0.200 1 119419519 missense variant G/A snv 2.0E-05 4.9E-05 3
rs762681512
HSD17B13
0.925 0.160 4 87318405 missense variant C/T snv 4.0E-06 2
rs119481076
HSD17B3
0.925 0.240 9 96244393 missense variant G/A;T snv 2.0E-05; 8.0E-06 2
rs144809928
HSD17B3
0.925 0.240 9 96235548 missense variant G/A;C snv 3.2E-05; 4.0E-06 2
rs201115371
HSD17B3
0.925 0.240 9 96254864 splice region variant T/A snv 3.4E-04 3.7E-04 2
rs372027264
HSD17B3
0.925 0.240 9 96244387 stop gained A/T snv 2.8E-05 3.5E-05 2
rs773720185
HSD17B3-AS1 ; HSD17B3
1.000 0.160 9 96245373 missense variant G/A;T snv 4.0E-06 2
rs149698797
HSD17B7
0.925 0.160 1 162792859 missense variant A/G snv 2
rs149607031
HSD17B3
1.000 0.160 9 96252911 splice acceptor variant C/G snv 4.0E-05 3.5E-05 1
rs1554694678
HSD17B3
1.000 0.160 9 96251455 inframe deletion AAG/- delins 1
rs1554705693
HSD17B3
1.000 0.160 9 96301983 frameshift variant TT/- delins 1
rs767765046
HSD17B3
1.000 0.160 9 96252805 stop gained A/C;G snv 8.0E-06; 8.0E-06 1
rs1554694264
HSD17B3-AS1 ; HSD17B3
1.000 0.160 9 96249787 splice acceptor variant C/T snv 1
rs750481017
LHCGR ; GTF2A1L ; STON1-GTF2A1L
1.000 0.160 2 48714011 missense variant A/C snv 4.0E-06 1
rs759563175
MIR4713HG ; CYP19A1
1.000 0.160 15 51212475 missense variant C/T snv 1.2E-05 7.0E-06 1