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: rs267606648
rs267606648
AK2
1 1.000 0.160 1 33021616 missense variant G/A;C;T snv 8.0E-06 0.800 1.000 3 2009 2017
dbSNP: rs267606643
rs267606643
AK2
1 1.000 0.160 1 33014526 missense variant T/C snv 0.800 1.000 2 2009 2009
dbSNP: rs137853206
rs137853206
AK2
1 1.000 0.160 1 33036828 start lost T/C snv 9.6E-06 0.700 0
dbSNP: rs1553150995
rs1553150995
AK2
1 1.000 0.160 1 33013378 frameshift variant G/- del 0.700 0
dbSNP: rs1553151177
rs1553151177
AK2
1 1.000 0.160 1 33014567 frameshift variant G/- delins 0.700 0
dbSNP: rs267606645
rs267606645
AK2
1 1.000 0.160 1 33013345 missense variant G/A snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs267606646
rs267606646
AK2
1 1.000 0.160 1 33013204 stop gained T/A snv 0.700 0
dbSNP: rs267606647
rs267606647
AK2
1 1.000 0.160 1 33036804 stop gained C/A;T snv 5.6E-04 0.700 0
dbSNP: rs387906581
rs387906581
AK2
1 1.000 0.160 1 33024543 frameshift variant A/- del 0.700 0