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: rs775067652
rs775067652
CA12
2 15 63345543 missense variant G/T snv 4.0E-06 0.800 1.000 3 2010 2016
dbSNP: rs267606694
rs267606694
CA12
3 1.000 0.040 15 63345479 missense variant C/T snv 7.0E-06 0.800 0
dbSNP: rs148438059
rs148438059
CA12
1 15 63327234 splice acceptor variant C/T snv 4.3E-04 4.3E-04 0.700 1.000 1 2016 2016
dbSNP: rs879253800
rs879253800
CA12
1 15 63338833 frameshift variant -/AGGT ins 0.700 1.000 1 2016 2016
dbSNP: rs757974800
rs757974800
CA12
1 15 63327184 frameshift variant CA/- delins 3.5E-05 0.700 0