Source: ALL
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: rs113994177
rs113994177
JUP
1 1.000 0.120 17 41757422 frameshift variant CA/- del 0.700 0
dbSNP: rs1555606936
rs1555606936
JUP
1 1.000 0.120 17 41771667 frameshift variant T/- del 0.700 0
dbSNP: rs782058451
rs782058451
JUP
3 0.882 0.120 17 41767386 missense variant T/C snv 2.0E-05 0.700 0
dbSNP: rs782440692
rs782440692
JUP
1 1.000 0.120 17 41767494 missense variant C/T snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs782460555
rs782460555
JUP
1 1.000 0.120 17 41771784 stop gained G/A;T snv 8.0E-06 0.700 0
dbSNP: rs797046139
rs797046139
JUP
1 1.000 0.120 17 41758753 stop gained G/A snv 0.700 0
dbSNP: rs886037753
rs886037753
JUP
2 1.000 0.120 17 41769418 splice region variant C/A;T snv 4.2E-06; 4.2E-06 0.700 0