Gene: PNKD ×
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: rs992157
rs992157
PNKD ; TMBIM1
10 0.790 0.080 2 218290058 5 prime UTR variant G/A snv 0.46 0.700 1.000 2 2018 2019
dbSNP: rs13020391
rs13020391
PNKD ; LOC105373881
9 0.790 0.080 2 218319713 intron variant C/T snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs3731861
rs3731861
PNKD ; CATIP-AS2
10 0.776 0.080 2 218326533 intron variant T/C snv 0.32 0.700 1.000 1 2019 2019