rs121918327, BBS12

N. diseases: 12
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 0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 0.700 1.000 1 2019 2019
BARDET-BIEDL SYNDROME 12
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
38 0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 0.700 1.000 1 2007 2007
Abnormality of cardiovascular system morphology
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
13 0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 0.700 0
Low Vision
CUI: C0042798
Disease: Low Vision
51 0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 0.700 0
Melanocortin 4 Receptor Deficiency
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
28 0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 0.700 0
Nyctalopia
CUI: C0028077
Disease: Nyctalopia
18 0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 0.700 0
Polydactyly
CUI: C0152427
Disease: Polydactyly
43 0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 0.700 0
POLYDACTYLY, POSTAXIAL
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
7 0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 0.700 0
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 0.700 0
Severe myopia
CUI: C0271183
Disease: Severe myopia
116 0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 0.700 0