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: rs1553253989
rs1553253989
2 1.000 0.160 1 108157481 missense variant C/T snv 0.810 1.000 2 2017 2018
dbSNP: rs1553253990
rs1553253990
2 1.000 0.160 1 108157482 missense variant G/A snv 0.800 1.000 1 2017 2017