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: rs121912645
rs121912645
4 0.882 0.080 2 10048376 missense variant G/T snv 1.3E-04 8.4E-05 0.020 0.500 2 2005 2006
dbSNP: rs34336420
rs34336420
4 0.882 0.080 2 10047996 missense variant C/G;T snv 4.0E-06; 3.3E-03 0.020 0.500 2 2005 2006
dbSNP: rs35927125
rs35927125
3 0.925 0.080 2 10046292 missense variant A/G;T snv 9.3E-02 0.020 0.500 2 2006 2013
dbSNP: rs867120336
rs867120336
2 1.000 0.040 2 10048589 frameshift variant -/A delins 4.1E-06 0.010 1.000 1 2019 2019