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: rs10774580
rs10774580
1 12 121038620 intron variant A/G snv 0.55 0.700 1.000 1 2013 2013
dbSNP: rs2259883
rs2259883
1 12 121024336 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs3213545
rs3213545
3 12 121033534 synonymous variant G/A snv 0.32 0.26 0.700 1.000 1 2013 2013