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: rs139644798
rs139644798
2 0.925 0.120 5 168510601 missense variant C/T snv 3.8E-04 4.3E-04 0.010 1.000 1 2017 2017
dbSNP: rs672601372
rs672601372
3 0.925 0.120 5 168486503 missense variant A/C;G;T snv 4.2E-05 0.010 1.000 1 2017 2017