Source: ALL
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: rs267607082
rs267607082
SOX17
1 1.000 8 54459282 missense variant G/A;C;T snv 1.0E-05; 1.0E-05; 5.0E-05 0.800 1.000 1 2010 2010
dbSNP: rs267607083
rs267607083
SOX17
1 1.000 8 54459525 missense variant T/A snv 3.8E-03 2.4E-03 0.700 1.000 1 2010 2010