Source: BEFREE

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: rs767572725
rs767572725
BBS10
1.000 0.120 12 76346910 stop gained G/A;C snv 4.0E-06; 1.8E-04
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.010 1.000 1 2013 2013