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: rs773801386
rs773801386
CCDC39
2 1.000 0.120 3 180654861 frameshift variant GT/- delins 4.2E-05 0.700 1.000 3 2013 2014
dbSNP: rs140505857
rs140505857
CCDC39
1 1.000 0.120 3 180642086 missense variant G/A snv 6.6E-04 1.1E-03 0.700 0
dbSNP: rs397515392
rs397515392
CCDC39
2 1.000 0.120 3 180661860 splice donor variant C/G snv 1.6E-04 7.0E-05 0.700 0
dbSNP: rs587778820
rs587778820
CCDC39
2 1.000 0.120 3 180619334 frameshift variant T/- delins 2.6E-05 1.4E-05 0.700 0
dbSNP: rs587778822
rs587778822
CCDC39
2 1.000 0.120 3 180651496 frameshift variant T/- delins 1.4E-05 0.700 0