Source: BEFREE

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: rs28934880
rs28934880
HSD3B2
1.000 0.200 1 119415448 missense variant C/A;T snv 1.2E-05; 4.0E-06
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		0.810 1.000 1 1993 2012
dbSNP: rs762479018
rs762479018
HSD3B2
1.000 0.200 1 119422019 missense variant T/G snv 2.8E-05 4.2E-05
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		0.710 1.000 1 1993 2012
dbSNP: rs765547422
rs765547422
HSD3B2
0.925 0.200 1 119422166 missense variant C/A snv 1.2E-05
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		0.710 1.000 1 1993 2014
dbSNP: rs1351141519
rs1351141519
POMC
0.882 0.200 2 25161718 missense variant G/C snv
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		0.010 1.000 1 2015 2015
dbSNP: rs1465262924
rs1465262924
ACOT7
0.925 0.240 1 6281155 missense variant T/G snv
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		0.010 1.000 1 2002 2002
dbSNP: rs201988564
rs201988564
FBN2
0.925 0.240 5 128464739 missense variant T/G snv 1.2E-05 2.1E-05
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		0.010 1.000 1 2002 2002
dbSNP: rs756607591
rs756607591
HSD3B2
0.882 0.200 1 119415454 missense variant G/A snv 4.0E-06 2.2E-04
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		0.010 1.000 1 2015 2015
dbSNP: rs905880501
rs905880501
HSD3B2
0.827 0.200 1 119422501 stop gained C/T snv
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		0.010 1.000 1 2012 2012