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: rs9517490
rs9517490
DOCK9
1 1.000 0.040 13 98932051 intron variant T/C snv 0.63 0.700 1.000 1 2018 2018
dbSNP: rs1129038
rs1129038
HERC2
8 0.851 0.120 15 28111713 3 prime UTR variant C/T snv 0.49 0.50 0.700 1.000 1 2018 2018
dbSNP: rs12913832
rs12913832
HERC2
15 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.700 1.000 1 2018 2018