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: rs2300747
rs2300747
3 0.882 0.200 1 116561593 intron variant A/G snv 0.19 0.820 1.000 6 2009 2018
dbSNP: rs1414273
rs1414273
1 1.000 0.080 1 116560027 non coding transcript exon variant C/T snv 0.15 0.27 0.010 1.000 1 2015 2015