rs768933093, BBS10

N. diseases: 10
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.
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05 0.700 1.000 17 1999 2013
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05 0.700 1.000 17 1999 2013
Bardet-Biedl Syndrome
CUI: C0752166
Disease: Bardet-Biedl Syndrome
163 0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05 0.700 1.000 4 2006 2015
Hearing Loss, High-Frequency
CUI: C0018780
Disease: Hearing Loss, High-Frequency
8 0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05 0.700 0
Macular degeneration
CUI: C0024437
Disease: Macular degeneration
16 0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05 0.700 0
Polydactyly of toes
CUI: C0158734
Disease: Polydactyly of toes
2 0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05 0.700 0
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05 0.700 0
Ulnar polydactyly of fingers
CUI: C0431904
Disease: Ulnar polydactyly of fingers
11 0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05 0.700 0
BARDET-BIEDL SYNDROME 10
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
94 0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05 0.800 1.000 16 2006 2017