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: rs1553794304
rs1553794304
6 0.851 0.160 3 196707860 stop gained -/T delins 0.700 1.000 1 2018 2018
dbSNP: rs4646536
rs4646536
14 0.724 0.440 12 57764205 intron variant A/G snv 0.38 0.32 0.010 1.000 1 2019 2019
dbSNP: rs9536282
rs9536282
KL
1 1.000 13 33043525 intron variant C/T snv 0.19 0.010 1.000 1 2019 2019