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: rs1553631770
rs1553631770
4 1.000 3 41233398 missense variant A/T snv 0.700 1.000 22 1991 2017
dbSNP: rs1553631783
rs1553631783
2 3 41233416 frameshift variant G/- delins 0.700 1.000 22 1991 2017
dbSNP: rs797044875
rs797044875
3 1.000 3 41235763 missense variant G/A snv 0.700 1.000 22 1991 2017