BBS9, Bardet-Biedl syndrome 9, 27241

N. diseases: 82; N. variants: 45
Disease: Melanocortin 4 Receptor Deficiency ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs775081992
rs775081992 		0.851 0.240 7 33152811 stop gained C/T snv 2.0E-05
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		0.700 0
dbSNP: rs886039799
rs886039799 		0.763 0.320 7 33273896 frameshift variant C/- del
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		0.700 0
dbSNP: rs886039801
rs886039801 		0.851 0.240 7 33388145 splice donor variant G/A snv
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		0.700 0