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: rs1468772495
rs1468772495
C12orf4
1 1.000 12 4518108 missense variant A/G snv 3.2E-05 4.9E-05 0.800 1.000 3 2015 2017
dbSNP: rs730882197
rs730882197
C12orf4
4 0.925 0.040 12 4525342 frameshift variant -/GTTT delins 0.700 0
dbSNP: rs749969789
rs749969789
C12orf4
1 1.000 12 4500218 stop gained G/A snv 2.4E-05 1.4E-05 0.700 0