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: rs13266634
rs13266634
23 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 0.100 1.000 11 2009 2020
dbSNP: rs4876369
rs4876369
4 0.882 0.120 8 117151265 intron variant A/G snv 0.10 0.010 1.000 1 2019 2019