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: rs121918405
rs121918405
1 11 72195454 stop gained C/G;T snv 7.0E-06 0.700 1.000 2 2009 2009
dbSNP: rs201431517
rs201431517
17 0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 0.700 1.000 2 2011 2014
dbSNP: rs121918406
rs121918406
1 11 72195928 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs144637717
rs144637717
1 11 72195749 splice donor variant T/C snv 3.4E-03 1.6E-03 0.700 0
dbSNP: rs1555069069
rs1555069069
1 11 72195359 stop gained G/A snv 0.700 0