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: rs121434488
rs121434488
2 0.925 0.080 17 2674110 missense variant G/A;C snv 4.0E-06 0.710 1.000 1 2003 2003
dbSNP: rs121434484
rs121434484
2 0.925 0.080 17 2670268 missense variant T/C snv 0.700 0
dbSNP: rs121434489
rs121434489
2 0.925 0.080 17 2638310 stop gained C/T snv 0.700 0