rs886039802, BBS4

N. diseases: 6
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 0.200 15 72712259 stop gained C/T snv 0.700 0
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.851 0.200 15 72712259 stop gained C/T snv 0.700 0
Hydrometrocolpos
CUI: C0269209
Disease: Hydrometrocolpos
2 0.851 0.200 15 72712259 stop gained C/T snv 0.700 0
Melanocortin 4 Receptor Deficiency
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
28 0.851 0.200 15 72712259 stop gained C/T snv 0.700 0
Nyctalopia
CUI: C0028077
Disease: Nyctalopia
18 0.851 0.200 15 72712259 stop gained C/T snv 0.700 0
Polydactyly
CUI: C0152427
Disease: Polydactyly
43 0.851 0.200 15 72712259 stop gained C/T snv 0.700 0