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: rs8192917
rs8192917
3 0.925 0.040 14 24632954 missense variant C/T snv 0.76 0.72 0.810 1.000 4 2010 2018
dbSNP: rs2273844
rs2273844
3 0.925 0.040 14 24634208 5 prime UTR variant G/A snv 0.24 0.26 0.010 1.000 1 2015 2015