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: rs1060503101
rs1060503101
3 0.925 0.080 2 165388782 missense variant C/T snv 0.700 0
dbSNP: rs387906686
rs387906686
23 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
dbSNP: rs797045942
rs797045942
1 2 165344559 missense variant G/A;C snv 0.700 0
dbSNP: rs869312663
rs869312663
5 0.882 0.200 2 165381114 missense variant A/G snv 0.700 0
dbSNP: rs771844443
rs771844443
3 1.000 0.040 2 165309194 missense variant A/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs796053150
rs796053150
3 1.000 0.040 2 165386827 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs797044927
rs797044927
3 0.925 0.080 2 165388746 missense variant G/A snv 0.010 1.000 1 2011 2011