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: rs549625604
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 17 1999 2013
dbSNP: rs549625604
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 17 1999 2013
dbSNP: rs549625604
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
BARDET-BIEDL SYNDROME 10 		0.700 1.000 7 2006 2016
dbSNP: rs549625604
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 5 2006 2019
dbSNP: rs549625604
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2006 2006
dbSNP: rs549625604
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.700 0
dbSNP: rs549625604
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04
CUI: C4017660
Disease: BARDET-BIEDL SYNDROME 6/10, DIGENIC
BARDET-BIEDL SYNDROME 6/10, DIGENIC 		0.700 0
dbSNP: rs549625604
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		0.700 0
dbSNP: rs549625604
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04
CUI: C0028754
Disease: Obesity
Obesity 		0.700 0
dbSNP: rs549625604
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs549625604
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.700 0
dbSNP: rs549625604
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04
CUI: C2112129
Disease: Postaxial foot polydactyly
Postaxial foot polydactyly 		0.700 0
dbSNP: rs549625604
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04
CUI: C4021606
Disease: Mesoaxial hand polydactyly
Mesoaxial hand polydactyly 		0.700 0