Gene: PNKD ×
Source: GWASCAT ×
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: rs2292553
rs2292553
PNKD ; TMBIM1 ; MIR6513
2 2 218282080 missense variant G/A snv 0.55 0.43 0.700 1.000 1 2019 2019
dbSNP: rs34001204
rs34001204
PNKD ; LOC105373880 ; LOC105373881
1 2 218314933 intron variant A/- del 0.44 0.700 1.000 1 2017 2017