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: rs202024436
rs202024436
1 11 111908969 splice acceptor variant T/C snv 3.6E-05 2.1E-05 0.700 0
dbSNP: rs397516686
rs397516686
1 11 111911722 start lost C/T snv 6.7E-05 2.8E-05 0.700 0
dbSNP: rs104894201
rs104894201
12 0.763 0.280 11 111908934 missense variant T/C snv 0.060 1.000 6 2005 2019
dbSNP: rs387907339
rs387907339
4 0.882 0.280 11 111908967 missense variant C/A;G snv 0.010 1.000 1 2012 2012