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: rs786200892
rs786200892
1 1.000 0.080 12 56042451 frameshift variant -/G delins 0.700 0
dbSNP: rs143951267
rs143951267
2 1.000 0.080 12 56042167 start lost A/C;G;T snv 0.700 1.000 3 2010 2015
dbSNP: rs786203998
rs786203998
1 1.000 0.080 12 56042423 splice acceptor variant A/T snv 0.700 0
dbSNP: rs148942765
rs148942765
1 1.000 0.080 12 56043440 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs797045919
rs797045919
1 1.000 0.080 12 56042476 stop gained C/T snv 0.700 0
dbSNP: rs267607023
rs267607023
1 1.000 0.080 12 56042518 missense variant G/A snv 0.800 1.000 2 2010 2014
dbSNP: rs148622862
rs148622862
1 1.000 0.080 12 56042170 splice donor variant G/A snv 0.700 0
dbSNP: rs1555208596
rs1555208596
1 1.000 0.080 12 56043401 frameshift variant TG/- delins 0.700 0