rs121908174, BBS2

N. diseases: 2
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 2 (disorder)
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
53 0.925 0.120 16 56514574 missense variant A/C snv 4.0E-06 0.800 1.000 10 2001 2017
Bardet-Biedl Syndrome
CUI: C0752166
Disease: Bardet-Biedl Syndrome
163 0.925 0.120 16 56514574 missense variant A/C snv 4.0E-06 0.700 0