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: rs149474339
rs149474339
CSTA
1 1.000 3 122341442 stop gained C/T snv 7.6E-05 4.9E-05 0.710 1.000 1 2015 2015
dbSNP: rs387906689
rs387906689
CSTA
1 1.000 3 122341526 stop gained C/T snv 0.700 0
dbSNP: rs398122804
rs398122804
CSTA
1 1.000 3 122337545 splice acceptor variant A/T snv 0.700 0
dbSNP: rs747711488
rs747711488
CSTA
1 1.000 3 122325356 stop gained A/T snv 8.0E-06 2.1E-05 0.700 0