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: rs1553259528
rs1553259528
1 1.000 1 200598241 missense variant G/C snv 0.800 1.000 2 2017 2018
dbSNP: rs139385693
rs139385693
1 1.000 1 200598264 missense variant G/A snv 4.0E-06 0.700 1.000 2 2017 2018
dbSNP: rs1553253022
rs1553253022
1 1.000 1 200554603 frameshift variant T/- delins 0.700 0
dbSNP: rs1553254322
rs1553254322
1 1.000 1 200565069 splice region variant C/T snv 0.700 0
dbSNP: rs1553259539
rs1553259539
1 1.000 1 200598304 inframe deletion AAC/- delins 0.700 0
dbSNP: rs1553264033
rs1553264033
1 1.000 1 200618461 stop gained A/T snv 0.700 0
dbSNP: rs1553264036
rs1553264036
1 1.000 1 200618478 frameshift variant A/- del 0.700 0
dbSNP: rs981349334
rs981349334
1 1.000 1 200565669 missense variant C/A snv 0.700 0