Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs119481075
rs119481075
HSD17B3
4 0.882 0.240 9 96254906 missense variant C/T snv 8.8E-05 8.4E-05 0.710 1.000 1 1996 1996
dbSNP: rs119481076
rs119481076
HSD17B3
2 0.925 0.240 9 96244393 missense variant G/A;T snv 2.0E-05; 8.0E-06 0.700 0
dbSNP: rs119481077
rs119481077
HSD17B3
3 0.882 0.240 9 96254907 missense variant G/A snv 3.2E-05 7.0E-06 0.700 0
dbSNP: rs144809928
rs144809928
HSD17B3
2 0.925 0.240 9 96235548 missense variant G/A;C snv 3.2E-05; 4.0E-06 0.700 0
dbSNP: rs149607031
rs149607031
HSD17B3
1 1.000 0.160 9 96252911 splice acceptor variant C/G snv 4.0E-05 3.5E-05 0.700 0
dbSNP: rs1554694264
rs1554694264
HSD17B3 ; HSD17B3-AS1
1 1.000 0.160 9 96249787 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1554694678
rs1554694678
HSD17B3
1 1.000 0.160 9 96251455 inframe deletion AAG/- delins 0.700 0
dbSNP: rs1554705693
rs1554705693
HSD17B3
1 1.000 0.160 9 96301983 frameshift variant TT/- delins 0.700 0
dbSNP: rs201115371
rs201115371
HSD17B3
2 0.925 0.240 9 96254864 splice region variant T/A snv 3.4E-04 3.7E-04 0.700 0
dbSNP: rs372027264
rs372027264
HSD17B3
2 0.925 0.240 9 96244387 stop gained A/T snv 2.8E-05 3.5E-05 0.700 0
dbSNP: rs747724352
rs747724352
HSD17B3
3 0.925 0.240 9 96251474 missense variant C/T snv 2.0E-05 0.700 0
dbSNP: rs750481017
rs750481017
LHCGR ; GTF2A1L ; STON1-GTF2A1L
1 1.000 0.160 2 48714011 missense variant A/C snv 4.0E-06 0.700 0
dbSNP: rs767765046
rs767765046
HSD17B3
1 1.000 0.160 9 96252805 stop gained A/C;G snv 8.0E-06; 8.0E-06 0.700 0
dbSNP: rs773720185
rs773720185
HSD17B3 ; HSD17B3-AS1
2 1.000 0.160 9 96245373 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs149698797
rs149698797
HSD17B7
2 0.925 0.160 1 162792859 missense variant A/G snv 0.010 1.000 1 1996 1996
dbSNP: rs757033996
rs757033996
HSD3B2
3 0.882 0.200 1 119419519 missense variant G/A snv 2.0E-05 4.9E-05 0.010 1.000 1 1994 1994
dbSNP: rs759563175
rs759563175
CYP19A1 ; MIR4713HG
1 1.000 0.160 15 51212475 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs762681512
rs762681512
HSD17B13
2 0.925 0.160 4 87318405 missense variant C/T snv 4.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs9332967
rs9332967
SRD5A2
7 0.790 0.200 2 31526224 missense variant C/T snv 2.3E-04 1.1E-04 0.010 1.000 1 2008 2008