Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs119481077
rs119481077
HSD17B3
0.882 0.240 9 96254907 missense variant G/A snv 3.2E-05 7.0E-06
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.800 1.000 0 1998 2013
dbSNP: rs119481075
rs119481075
HSD17B3
0.882 0.240 9 96254906 missense variant C/T snv 8.8E-05 8.4E-05
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.710 1.000 0 2012 2012
dbSNP: rs119481080
rs119481080
HSD17B3
1.000 0.240 9 96240777 missense variant C/T snv
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.710 1.000 0 2001 2001
dbSNP: rs144809928
rs144809928
HSD17B3
0.925 0.240 9 96235548 missense variant G/A;C snv 3.2E-05; 4.0E-06
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.700 1.000 6 1994 2016
dbSNP: rs28939085
rs28939085
HSD17B3
0.882 0.240 9 96240885 missense variant G/A snv 2.0E-05 2.1E-05
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.700 1.000 6 1994 2016
dbSNP: rs372027264
rs372027264
HSD17B3
0.925 0.240 9 96244387 stop gained A/T snv 2.8E-05 3.5E-05
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.700 1.000 6 1994 2016
dbSNP: rs747724352
rs747724352
HSD17B3
0.925 0.240 9 96251474 missense variant C/T snv 2.0E-05
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.700 1.000 6 1994 2016
dbSNP: rs767259718
rs767259718
HSD17B3 ; HSD17B3-AS1
1.000 0.240 9 96245424 missense variant T/C;G snv 4.0E-06; 8.0E-06
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.700 1.000 6 1994 2016
dbSNP: rs115063639
rs115063639
HSD17B3
1.000 0.240 9 96244356 missense variant T/A;C snv 4.8E-05; 4.0E-06
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.700 0
dbSNP: rs119481074
rs119481074
HSD17B3
1.000 0.240 9 96240877 missense variant T/C snv 7.0E-06
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.700 0
dbSNP: rs119481076
rs119481076
HSD17B3
0.925 0.240 9 96244393 missense variant G/A;T snv 2.0E-05; 8.0E-06
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.700 0
dbSNP: rs119481078
rs119481078
HSD17B3
1.000 0.240 9 96298451 missense variant C/T snv 8.0E-06
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.700 0
dbSNP: rs119481079
rs119481079
HSD17B3
1.000 0.240 9 96251482 missense variant T/C snv 3.6E-05 3.5E-05
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.700 0
dbSNP: rs747329682
rs747329682
HSD17B3
1.000 0.240 9 96298423 missense variant G/A snv 1.2E-05
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.700 0