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: rs137853011
rs137853011
16 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.700 1.000 7 2005 2016
dbSNP: rs1555913881
rs1555913881
1 22 28695841 frameshift variant T/- del 0.700 1.000 1 2004 2004
dbSNP: rs555607708
rs555607708
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 1.000 1 2017 2017
dbSNP: rs587780170
rs587780170
5 0.851 0.120 22 28695786 missense variant C/A;G;T snv 2.8E-05; 8.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs786202676
rs786202676
2 22 28696956 missense variant T/A;G snv 0.700 1.000 1 2011 2011
dbSNP: rs17879961
rs17879961
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.020 1.000 2 2012 2016
dbSNP: rs778212685
rs778212685
8 0.827 0.120 22 28712015 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2010 2010