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: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1365501228
rs1365501228
2 1.000 0.080 6 43770732 missense variant C/T snv 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs1570360
rs1570360
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2016 2016
dbSNP: rs771561387
rs771561387
2 1.000 0.080 6 43784557 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.010 < 0.001 1 2009 2009