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: rs137854435
rs137854435
FAM83H
2 0.925 0.080 8 143728488 stop gained G/A snv 0.700 0
dbSNP: rs137854436
rs137854436
FAM83H
2 0.925 0.080 8 143728269 stop gained G/A snv 0.700 0
dbSNP: rs137854437
rs137854437
FAM83H
1 1.000 0.080 8 143728218 stop gained C/A;T snv 1.4E-05 0.700 0
dbSNP: rs137854438
rs137854438
FAM83H
2 1.000 0.080 8 143728570 stop gained A/T snv 0.700 0
dbSNP: rs137854439
rs137854439
FAM83H
1 1.000 0.080 8 143728081 stop gained C/G;T snv 4.2E-06 0.700 0
dbSNP: rs137854440
rs137854440
FAM83H
1 1.000 0.080 8 143727432 stop gained G/A snv 0.700 0
dbSNP: rs137854441
rs137854441
FAM83H
1 1.000 0.080 8 143728053 stop gained G/A snv 0.700 0
dbSNP: rs137854442
rs137854442
FAM83H
1 1.000 0.080 8 143728601 stop gained G/A;T snv 2.1E-05 0.700 0
dbSNP: rs137854444
rs137854444
FAM83H
1 1.000 0.080 8 143728082 stop gained C/T snv 0.700 0
dbSNP: rs1554623490
rs1554623490
FAM83H
1 1.000 0.080 8 143728534 frameshift variant AC/- delins 0.700 0
dbSNP: rs312262803
rs312262803
FAM83H
1 1.000 0.080 8 143727792 missense variant C/A snv 6.4E-03 1.8E-03 0.700 0
dbSNP: rs387907056
rs387907056
FAM83H
1 1.000 0.080 8 143728095 stop gained G/A;C snv 0.700 0
dbSNP: rs796065023
rs796065023
FAM83H
1 1.000 0.080 8 143728537 frameshift variant AG/- delins 0.700 0