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: rs1250552
rs1250552
5 0.882 0.200 10 79298270 intron variant A/C;G snv 0.800 1.000 2 2010 2011
dbSNP: rs1250557
rs1250557
1 1.000 0.080 10 79306017 intron variant G/T snv 0.63 0.700 1.000 1 2016 2016
dbSNP: rs1250563
rs1250563
14 0.724 0.240 10 79287626 intron variant G/C snv 0.24 0.700 1.000 1 2015 2015