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: rs1555369050
rs1555369050
IFT43 ; LOC105370573
2 0.925 0.080 14 76083470 missense variant T/C snv 0.800 1.000 1 2017 2017
dbSNP: rs769724508
rs769724508
IFT43
2 0.925 0.080 14 75985788 start lost T/A;C snv 8.0E-06 0.700 0