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: rs121912714
rs121912714
SERPINA1
4 0.882 0.160 14 94380949 missense variant T/A snv 4.7E-04 3.3E-04 0.700 1.000 1 1989 1989
dbSNP: rs28929474
rs28929474
SERPINA1
37 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 1 1985 1985
dbSNP: rs1553553086
rs1553553086
FARSB
9 0.827 0.280 2 222623699 missense variant C/T snv 0.700 0
dbSNP: rs1555257073
rs1555257073
POMP
25 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
dbSNP: rs199422209
rs199422209
SERPINA1
4 0.882 0.160 14 94378528 missense variant G/A;C;T snv 4.8E-05; 1.2E-05; 3.2E-05 0.700 0
dbSNP: rs201430951
rs201430951
NUBPL
7 0.925 0.040 14 31599308 missense variant T/C snv 1.5E-04 5.6E-05 0.700 0
dbSNP: rs397514452
rs397514452
ADK
5 1.000 10 74670258 missense variant C/A;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs778139192
rs778139192
TICRR ; KIF7
14 0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05 0.700 0