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: rs778391533
rs778391533
1 1.000 0.040 5 176626747 missense variant C/T snv 4.0E-06 0.020 1.000 2 2010 2010
dbSNP: rs35035889
rs35035889
1 1.000 0.040 5 176623953 intron variant C/G;T snv 0.010 1.000 1 2007 2007