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: rs12676304
rs12676304
1 8 128151049 intron variant A/C snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs4733789
rs4733789
1 8 127822157 intron variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs6992123
rs6992123
1 8 127978488 intron variant A/G snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs6992491
rs6992491
1 8 128185657 intron variant C/G snv 0.25 0.700 1.000 1 2019 2019