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: rs144848
rs144848
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2007 2007
dbSNP: rs202155613
rs202155613
3 0.882 0.200 13 32379902 stop gained C/A;G;T snv 4.0E-05 0.010 1.000 1 2006 2006
dbSNP: rs786203411
rs786203411
2 0.925 0.120 13 32398582 missense variant A/G snv 7.0E-06 0.010 < 0.001 1 2003 2003