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: rs57872071
rs57872071
1 1.000 0.080 12 52791216 missense variant C/T snv 8.0E-06 1.4E-05 0.700 1.000 2 1997 2005
dbSNP: rs60410063
rs60410063
2 0.925 0.080 12 52791233 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 0.700 0