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: rs10858246
rs10858246
1 9 136210985 intron variant G/C snv 0.23 0.700 1.000 1 2017 2017
dbSNP: rs12684650
rs12684650
1 9 136218808 splice region variant C/T snv 0.24 0.22 0.700 1.000 1 2019 2019
dbSNP: rs7024579
rs7024579
3 9 136208567 3 prime UTR variant C/A;T snv 0.700 1.000 1 2019 2019