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 2017 2017
dbSNP: rs2146323
rs2146323
13 0.752 0.480 6 43777358 non coding transcript exon variant C/A snv 0.31 0.010 < 0.001 1 2010 2010
dbSNP: rs3025033
rs3025033
6 0.807 0.360 6 43783338 non coding transcript exon variant A/G snv 0.18 0.010 < 0.001 1 2010 2010