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: rs11674363
rs11674363
1 2 170333916 splice region variant T/C snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs36006524
rs36006524
1 2 170334274 intron variant C/T snv 0.34 0.700 1.000 1 2018 2018