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: rs5030732
rs5030732
10 0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 0.100 0.926 27 2000 2017
dbSNP: rs397515634
rs397515634
3 0.925 0.040 4 41256996 missense variant A/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs745957339
rs745957339
1 1.000 0.040 4 41257617 missense variant C/A;T snv 5.7E-05; 1.3E-05 0.010 1.000 1 2011 2011