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: rs587777443
rs587777443
HSD17B4
2 1.000 0.280 5 119525259 missense variant T/C snv 7.0E-06 0.700 1.000 4 2006 2014
dbSNP: rs766199971
rs766199971
HSD17B4
2 1.000 0.280 5 119525228 missense variant C/T snv 7.0E-06 0.700 1.000 3 2006 2015
dbSNP: rs773305477
rs773305477
HSD17B4
1 5 119477461 missense variant C/T snv 2.8E-05 2.1E-05 0.700 1.000 3 2006 2017
dbSNP: rs969485098
rs969485098
HSD17B4
2 1.000 0.280 5 119493820 missense variant C/T snv 8.0E-06 0.700 1.000 2 2006 2013
dbSNP: rs1057516672
rs1057516672
HSD17B4
1 5 119475719 frameshift variant -/A delins 0.700 1.000 1 2013 2013
dbSNP: rs1085307072
rs1085307072
HSD17B4
2 1.000 0.280 5 119452578 start lost G/A snv 0.700 1.000 1 2000 2000
dbSNP: rs1561457987
rs1561457987
HSD17B4
1 5 119493864 frameshift variant C/- delins 0.700 1.000 1 2006 2006
dbSNP: rs751646311
rs751646311
HSD17B4
2 1.000 0.280 5 119536458 stop gained C/T snv 4.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs1057516269
rs1057516269
HSD17B4
1 5 119496546 stop gained C/G snv 0.700 0
dbSNP: rs1057516273
rs1057516273
HSD17B4
1 5 119514979 splice acceptor variant A/C snv 4.0E-06 0.700 0
dbSNP: rs1057516310
rs1057516310
HSD17B4
1 5 119479003 frameshift variant ACAG/- delins 0.700 0
dbSNP: rs1057516312
rs1057516312
HSD17B4
1 5 119531316 frameshift variant A/- delins 0.700 0
dbSNP: rs1057516735
rs1057516735
HSD17B4
1 5 119506824 stop gained T/G snv 0.700 0
dbSNP: rs1057516750
rs1057516750
HSD17B4
1 5 119489275 frameshift variant TTTG/- delins 0.700 0
dbSNP: rs1057516859
rs1057516859
HSD17B4
1 5 119514983 frameshift variant AG/- del 0.700 0
dbSNP: rs1057516936
rs1057516936
HSD17B4
1 5 119527167 frameshift variant CT/- delins 0.700 0
dbSNP: rs1057516958
rs1057516958
HSD17B4
1 5 119475871 splice donor variant G/T snv 0.700 0
dbSNP: rs1057517045
rs1057517045
HSD17B4
1 5 119506854 frameshift variant GATA/- delins 0.700 0
dbSNP: rs1057517118
rs1057517118
HSD17B4
1 5 119499315 splice acceptor variant A/C snv 0.700 0
dbSNP: rs1057517152
rs1057517152
HSD17B4
1 5 119531344 frameshift variant GTAAA/- delins 0.700 0
dbSNP: rs1057517323
rs1057517323
HSD17B4
2 1.000 0.280 5 119525970 frameshift variant -/GTGT delins 2.1E-05 0.700 0
dbSNP: rs1171426785
rs1171426785
HSD17B4
1 5 119478832 splice acceptor variant A/G;T snv 7.0E-06 0.700 0
dbSNP: rs1224475289
rs1224475289
HSD17B4
1 5 119473907 splice acceptor variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1231357043
rs1231357043
HSD17B4
1 5 119474017 splice donor variant T/C snv 0.700 0
dbSNP: rs1276397342
rs1276397342
HSD17B4
1 5 119474447 frameshift variant T/- delins 7.0E-06 0.700 0