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: rs781490101
rs781490101
5 0.851 0.040 17 7673748 missense variant T/C snv 8.0E-06 0.010 1.000 1 2009 2009