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: rs371344688
rs371344688
1 1.000 0.040 1 156876514 missense variant C/G;T snv 6.4E-05; 2.4E-05 0.010 1.000 1 2014 2014