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: rs1011731
rs1011731
4 1 172377408 intron variant G/A snv 0.46 0.800 1.000 2 2010 2015
dbSNP: rs10752944
rs10752944
1 1 172394384 non coding transcript exon variant C/T snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs12138803
rs12138803
1 1 172379683 intron variant C/T snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs714515
rs714515
3 1 172383850 intron variant G/A snv 0.46 0.700 1.000 1 2018 2018