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: rs1057519874
rs1057519874
9 0.807 0.120 7 6387261 missense variant C/A;T snv 0.070 1.000 7 2013 2019
dbSNP: rs10951982
rs10951982
5 0.851 0.160 7 6382925 intron variant G/A;T snv 0.010 1.000 1 2018 2018