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: rs1558478047
rs1558478047
KDM5B
1 1.000 1 202730976 stop gained A/C snv 0.700 1.000 3 2018 2018
dbSNP: rs1558498928
rs1558498928
KDM5B
1 1.000 1 202762722 stop gained G/A snv 0.700 1.000 3 2018 2018
dbSNP: rs1558479778
rs1558479778
KDM5B
1 1.000 1 202733511 frameshift variant G/- delins 0.700 0
dbSNP: rs1558501648
rs1558501648
KDM5B
1 1.000 1 202767014 frameshift variant -/A delins 0.700 0
dbSNP: rs375695605
rs375695605
KDM5B
1 1.000 1 202764070 missense variant G/A;C snv 0.700 0