rs567573386, BBS2

N. diseases: 5
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 0.882 0.120 16 56484820 stop gained G/A snv 3.2E-05 1.4E-05 0.700 1.000 3 2011 2016
Bardet-Biedl syndrome 2 (disorder)
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
53 0.882 0.120 16 56484820 stop gained G/A snv 3.2E-05 1.4E-05 0.700 1.000 3 2011 2017
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.882 0.120 16 56484820 stop gained G/A snv 3.2E-05 1.4E-05 0.700 1.000 3 2007 2013
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.882 0.120 16 56484820 stop gained G/A snv 3.2E-05 1.4E-05 0.700 1.000 3 2007 2013
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 0.882 0.120 16 56484820 stop gained G/A snv 3.2E-05 1.4E-05 0.700 1.000 3 2007 2013