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: rs746763506
rs746763506
FKTN
4 0.851 0.160 9 105604452 stop gained C/T snv 8.0E-06 7.0E-06 0.700 1.000 2 2001 2003
dbSNP: rs119463992
rs119463992
FKTN
2 0.925 0.120 9 105617968 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs1554754182
rs1554754182
FKTN
5 0.827 0.200 9 105606576 intron variant G/T snv 0.700 0