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: rs1060499769
rs1060499769
1 6 152354858 missense variant C/T snv 1.2E-05 0.700 0
dbSNP: rs150304757
rs150304757
1 6 152244534 splice region variant C/T snv 3.9E-03 8.8E-04 0.700 0