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 0.800 1.000 20 2010 2018
dbSNP: rs753535070
rs753535070
5 0.851 0.120 1 155187350 missense variant T/C snv 8.0E-06 0.010 1.000 1 2009 2009