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: rs2102575
rs2102575
1 4 186210350 intron variant G/A snv 0.90 0.700 1.000 1 2012 2012
dbSNP: rs3736455
rs3736455
1 4 186201165 synonymous variant T/A;G snv 1.6E-05; 0.59 0.700 1.000 1 2011 2011
dbSNP: rs13146272
rs13146272
3 1.000 0.040 4 186199057 missense variant C/A snv 0.57 0.61 0.030 1.000 3 2009 2019