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: rs1553335247
rs1553335247
1 1.000 2 47809195 missense variant A/G snv 0.800 1.000 3 2017 2018
dbSNP: rs1553338592
rs1553338592
1 1.000 2 47823147 missense variant T/C snv 0.800 1.000 3 2017 2018
dbSNP: rs1553342109
rs1553342109
1 1.000 2 47839447 missense variant T/A snv 0.800 1.000 3 2017 2018
dbSNP: rs1553334863
rs1553334863
1 1.000 2 47808163 frameshift variant TA/- delins 0.700 0
dbSNP: rs1553334874
rs1553334874
1 1.000 2 47808192 splice donor variant -/A delins 0.700 0
dbSNP: rs1553342101
rs1553342101
1 1.000 2 47839417 splice region variant -/C delins 0.700 0