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: rs10876890
rs10876890
1 1.000 12 56439967 intron variant A/T snv 0.56 0.010 1.000 1 2017 2017
dbSNP: rs2291738
rs2291738
8 0.807 0.160 12 56421497 splice region variant T/C snv 0.43 0.39 0.010 1.000 1 2017 2017