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: rs2857078
rs2857078
5 17 44252803 intron variant A/C snv 0.62 0.700 1.000 2 2016 2019
dbSNP: rs13306780
rs13306780
2 17 44251636 intron variant A/C;T snv 0.62; 4.2E-06 0.700 1.000 1 2017 2017