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: rs2234962
rs2234962
3 1.000 0.040 10 119670121 missense variant T/C snv 0.17 0.15 0.010 1.000 1 2011 2011
dbSNP: rs387906876
rs387906876
2 0.925 0.040 10 119676984 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs397514507
rs397514507
2 0.925 0.040 10 119676939 missense variant T/C snv 0.010 1.000 1 2011 2011
dbSNP: rs397516881
rs397516881
7 0.827 0.120 10 119676917 missense variant G/A snv 0.010 1.000 1 2017 2017