rs1555202806, BBS10

N. diseases: 3
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.
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 1.000 0.120 12 76348313 frameshift variant AACGCCGC/- delins 0.700 1.000 17 1999 2013
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 1.000 0.120 12 76348313 frameshift variant AACGCCGC/- delins 0.700 1.000 17 1999 2013
Bardet-Biedl Syndrome
CUI: C0752166
Disease: Bardet-Biedl Syndrome
163 1.000 0.120 12 76348313 frameshift variant AACGCCGC/- delins 0.700 1.000 3 2006 2016