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: rs12066959
rs12066959
1 1 196948769 intron variant G/A snv 0.26 0.700 1.000 1 2013 2013
dbSNP: rs201886468
rs201886468
1 1 196948769 intron variant -/AT delins 1.4E-02 0.700 1.000 1 2013 2013
dbSNP: rs3790414
rs3790414
1 1 196951169 intron variant T/A snv 0.26 0.700 1.000 1 2013 2013
dbSNP: rs4085749
rs4085749
1 1 196951018 stop gained C/A;T snv 0.31 0.700 1.000 1 2013 2013