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: rs886039235
rs886039235
1 6 90561637 missense variant C/A snv 0.800 1.000 1 2016 2016
dbSNP: rs886039237
rs886039237
1 6 90553473 missense variant A/C;T snv 0.800 1.000 1 2016 2016
dbSNP: rs886039234
rs886039234
1 6 90571793 inframe deletion TCTTCC/- delins 0.700 0
dbSNP: rs886039236
rs886039236
1 6 90571778 inframe deletion AAC/- delins 0.700 0