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: rs555349004
rs555349004
1 1.000 3 138103703 missense variant G/A snv 3.6E-05 2.8E-05 0.800 1.000 1 2017 2017
dbSNP: rs1135402754
rs1135402754
1 1.000 3 138103699 missense variant C/G snv 0.800 0
dbSNP: rs1135402755
rs1135402755
1 1.000 3 138103509 stop gained G/A snv 0.700 0
dbSNP: rs1135402756
rs1135402756
1 1.000 3 138086961 frameshift variant CT/- delins 0.700 0