Source: ALL
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: rs3173615
rs3173615
12 0.807 0.200 7 12229791 missense variant C/A;G snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs34016896
rs34016896
3 0.925 0.080 3 161275076 regulatory region variant C/T snv 0.28 0.010 1.000 1 2018 2018