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: rs1269750663
rs1269750663
CCDC47
1 1.000 17 63752334 stop gained G/A snv 1.4E-05 0.700 0
dbSNP: rs1568246398
rs1568246398
CCDC47
1 1.000 17 63752358 frameshift variant A/- delins 0.700 0
dbSNP: rs749027804
rs749027804
CCDC47
1 1.000 17 63756495 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs750123815
rs750123815
CCDC47
1 1.000 17 63752378 frameshift variant A/- del 1.6E-05 1.4E-05 0.700 0