Source: CLINVAR

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: rs778431173
rs778431173
BBS10
12 76346181 missense variant C/A;G snv 4.0E-06 7.0E-06
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 17 1999 2013