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: rs138119149
rs138119149
11 0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 0.700 1.000 4 2011 2014
dbSNP: rs368934219
rs368934219
2 1.000 6 44303177 splice acceptor variant T/C snv 1.6E-05 1.4E-05 0.700 1.000 4 2011 2014