Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555360883
rs1555360883
TGFB3 ; IFT43
1 1.000 14 75971719 splice acceptor variant C/G snv 0.700 1.000 1 2015 2015