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: rs116372990
rs116372990
2 1.000 0.040 17 58232901 non coding transcript exon variant G/A snv 4.0E-03 0.700 1.000 1 2015 2015
dbSNP: rs141829479
rs141829479
2 1.000 0.040 17 58227703 intron variant G/A snv 3.9E-03 0.700 1.000 1 2015 2015
dbSNP: rs8178393
rs8178393
LPO
2 1.000 0.040 17 58263090 intron variant C/T snv 2.6E-03 0.700 1.000 1 2015 2015