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: rs567573386
rs567573386
BBS2
0.882 0.120 16 56484820 stop gained G/A snv 3.2E-05 1.4E-05
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		0.700 1.000 3 2011 2017
dbSNP: rs567573386
rs567573386
BBS2
0.882 0.120 16 56484820 stop gained G/A snv 3.2E-05 1.4E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 3 2007 2013
dbSNP: rs567573386
rs567573386
BBS2
0.882 0.120 16 56484820 stop gained G/A snv 3.2E-05 1.4E-05
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 3 2007 2013
dbSNP: rs567573386
rs567573386
BBS2
0.882 0.120 16 56484820 stop gained G/A snv 3.2E-05 1.4E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 3 2007 2013
dbSNP: rs567573386
rs567573386
BBS2
0.882 0.120 16 56484820 stop gained G/A snv 3.2E-05 1.4E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 3 2011 2016