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: rs17730281
rs17730281
3 1.000 0.080 15 53615751 missense variant G/A snv 0.26 0.22 0.800 1.000 2 2012 2019
dbSNP: rs1906412
rs1906412
1 15 53638906 intron variant G/A;C;T snv 0.700 1.000 1 2018 2018