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: rs104894369
rs104894369
10 0.807 0.080 12 110914287 missense variant C/A;T snv 0.700 0
dbSNP: rs143139258
rs143139258
4 0.882 0.080 12 110913097 missense variant T/G snv 2.0E-04 2.9E-04 0.700 0
dbSNP: rs397516408
rs397516408
2 0.925 0.080 12 110919117 missense variant T/C snv 0.700 0
dbSNP: rs587782965
rs587782965
3 0.882 0.080 12 110914221 missense variant G/T snv 0.700 0
dbSNP: rs730880944
rs730880944
1 1.000 0.080 12 110919144 missense variant A/G snv 0.700 0
dbSNP: rs199474815
rs199474815
2 0.925 0.080 12 110911081 missense variant T/A snv 0.010 1.000 1 2019 2019