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: rs1553630472
rs1553630472
1 1.000 3 41225721 stop gained C/T snv 0.700 1.000 22 1991 2017
dbSNP: rs1553631770
rs1553631770
4 1.000 3 41233398 missense variant A/T snv 0.700 1.000 22 1991 2017
dbSNP: rs775104326
rs775104326
10 0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 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