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: rs863225436
rs863225436
TFRC
2 0.925 0.120 3 196075339 missense variant A/G snv 0.800 1.000 1 2016 2016
dbSNP: rs1341988492
rs1341988492
TFRC
1 1.000 3 196065442 splice donor variant C/A snv 0.700 0