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: rs121908458
rs121908458
4 0.882 0.120 5 137870830 missense variant C/G;T snv 3.6E-05 0.710 1.000 1 2012 2012
dbSNP: rs28937597
rs28937597
2 0.925 0.080 5 137870821 missense variant C/T snv 0.700 0
dbSNP: rs1264310581
rs1264310581
1 1.000 0.080 5 137870667 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2014 2014