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: rs1293441395
rs1293441395
2 0.925 0.080 9 78306457 missense variant T/A snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs202103028
rs202103028
2 0.925 0.080 9 78328997 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs370535310
rs370535310
3 0.925 0.080 9 78304854 missense variant C/T snv 2.1E-05 0.010 < 0.001 1 2013 2013