rs775081992, BBS9

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Bardet-Biedl Syndrome
CUI: C0752166
Disease: Bardet-Biedl Syndrome
163 0.851 0.240 7 33152811 stop gained C/T snv 2.0E-05 0.700 0
Hypogonadism
CUI: C0020619
Disease: Hypogonadism
24 0.851 0.240 7 33152811 stop gained C/T snv 2.0E-05 0.700 0
Low Vision
CUI: C0042798
Disease: Low Vision
51 0.851 0.240 7 33152811 stop gained C/T snv 2.0E-05 0.700 0
Melanocortin 4 Receptor Deficiency
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
28 0.851 0.240 7 33152811 stop gained C/T snv 2.0E-05 0.700 0
Polydactyly
CUI: C0152427
Disease: Polydactyly
43 0.851 0.240 7 33152811 stop gained C/T snv 2.0E-05 0.700 0