rs786204671, BBS10

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
CUI: C0752166
Disease: Bardet-Biedl Syndrome
163 0.925 0.120 12 76347254 frameshift variant TTCT/- delins 0.700 1.000 10 2006 2019
BARDET-BIEDL SYNDROME 10
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
94 0.925 0.120 12 76347254 frameshift variant TTCT/- delins 0.700 1.000 5 2006 2014