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: rs147198552
rs147198552
3 0.882 0.080 2 136115450 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs910532454
rs910532454
4 0.882 0.080 2 136115453 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2009 2009