Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs768933093
rs768933093
BBS10
0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
BARDET-BIEDL SYNDROME 10 		0.800 1.000 12 2006 2017
dbSNP: rs768933093
rs768933093
BBS10
0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 17 1999 2013
dbSNP: rs768933093
rs768933093
BBS10
0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 17 1999 2013
dbSNP: rs768933093
rs768933093
BBS10
0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 4 2006 2015
dbSNP: rs768933093
rs768933093
BBS10
0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		0.700 0
dbSNP: rs768933093
rs768933093
BBS10
0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05
CUI: C0018780
Disease: Hearing Loss, High-Frequency
Hearing Loss, High-Frequency 		0.700 0
dbSNP: rs768933093
rs768933093
BBS10
0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 0
dbSNP: rs768933093
rs768933093
BBS10
0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		0.700 0
dbSNP: rs768933093
rs768933093
BBS10
0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05
CUI: C0024437
Disease: Macular degeneration
Macular degeneration 		0.700 0
dbSNP: rs768933093
rs768933093
BBS10
0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0