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: rs121917883
rs121917883
4 0.851 0.160 3 172447803 missense variant G/A;T snv 2.8E-05 0.800 1.000 2 2006 2009
dbSNP: rs199588904
rs199588904
1 1.000 0.120 3 172447705 missense variant T/A snv 2.0E-04 7.0E-05 0.700 1.000 2 2006 2009
dbSNP: rs267606843
rs267606843
1 1.000 0.120 3 172448408 stop gained C/G;T snv 4.6E-06 0.700 0