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: rs3812265
rs3812265
3 0.925 0.040 7 135364052 missense variant C/G;T snv 0.27 0.010 < 0.001 1 2017 2017