rs749974697, 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 33152851 stop gained C/A;T snv 4.0E-06; 1.6E-05 0.700 0
Polydactyly
CUI: C0152427
Disease: Polydactyly
43 0.851 0.240 7 33152851 stop gained C/A;T snv 4.0E-06; 1.6E-05 0.700 0
Received therapy or drug for
CUI: C0332154
Disease: Received therapy or drug for
5 0.851 0.240 7 33152851 stop gained C/A;T snv 4.0E-06; 1.6E-05 0.700 0
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.851 0.240 7 33152851 stop gained C/A;T snv 4.0E-06; 1.6E-05 0.700 0
Rinderpest
CUI: C0035637
Disease: Rinderpest
5 0.851 0.240 7 33152851 stop gained C/A;T snv 4.0E-06; 1.6E-05 0.700 0