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: rs6864049
rs6864049
2 5 124994829 intron variant A/C;G;T snv 0.700 1.000 7 2015 2019
dbSNP: rs4357030
rs4357030
1 5 124980338 non coding transcript exon variant C/T snv 0.72 0.700 1.000 1 2017 2017
dbSNP: rs4836133
rs4836133
5 0.925 0.160 5 124996410 intron variant C/A;G;T snv 0.700 1.000 1 2010 2010