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: rs542489955
rs542489955
FKBP14 ; LOC105375215
6 0.851 0.120 7 30019110 frameshift variant -/G delins 5.5E-04 5.4E-04 0.700 1.000 4 2012 2018
dbSNP: rs1430849353
rs1430849353
FKBP14 ; LOC105375215
1 1.000 7 30014796 inframe deletion CTT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1562840744
rs1562840744
FKBP14 ; LOC105375215
1 1.000 7 30026353 stop gained A/T snv 0.700 0
dbSNP: rs747353360
rs747353360
FKBP14 ; LOC105375215
1 1.000 7 30026304 splice donor variant TTAC/- delins 7.0E-06 0.700 0
dbSNP: rs770271683
rs770271683
FKBP14 ; PLEKHA8 ; LOC105375215
1 1.000 7 30026449 frameshift variant GCCCCAATCAAAGAAGTGA/- delins 4.0E-06 0.700 0