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: rs219780
rs219780
2 0.925 0.120 21 36461009 synonymous variant C/A;T snv 4.0E-06; 0.16 0.810 1.000 2 2009 2015
dbSNP: rs219778
rs219778
3 0.925 0.120 21 36462343 intron variant A/G snv 0.31 0.710 1.000 2 2009 2015
dbSNP: rs199565725
rs199565725
1 1.000 0.120 21 36462941 intron variant CA/- delins 6.6E-02 0.700 1.000 1 2015 2015
dbSNP: rs219781
rs219781
2 1.000 0.120 21 36460323 non coding transcript exon variant G/T snv 0.25 0.700 1.000 1 2009 2009