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: rs4072037
rs4072037
22 0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59 0.020 1.000 2 2014 2018
dbSNP: rs1464894231
rs1464894231
1 1 155187294 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs764097944
rs764097944
1 1 155187482 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012