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: rs530552002
rs530552002
1 1.000 0.080 6 43636471 missense variant C/T snv 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs765108575
rs765108575
1 1.000 0.080 6 43636483 missense variant G/A snv 4.0E-06; 4.0E-06 1.4E-05 0.010 1.000 1 1998 1998