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: rs1051006
rs1051006
2 11 47285034 missense variant G/A;C snv 0.26; 4.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs4752979
rs4752979
1 11 47317629 intron variant A/G snv 0.31 0.700 1.000 1 2009 2009