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: rs855791
rs855791
38 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 0.700 1.000 3 2009 2012
dbSNP: rs4820268
rs4820268
14 0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06 0.700 1.000 2 2009 2012
dbSNP: rs228907
rs228907
2 22 37101553 intron variant G/A snv 0.33 0.700 1.000 1 2009 2009
dbSNP: rs228918
rs228918
3 22 37110640 upstream gene variant T/C snv 0.40 0.700 1.000 1 2009 2009
dbSNP: rs228919
rs228919
3 22 37110673 upstream gene variant G/T snv 0.40 0.700 1.000 1 2009 2009
dbSNP: rs228921
rs228921
3 22 37110836 upstream gene variant A/G snv 0.41 0.700 1.000 1 2009 2009
dbSNP: rs2413450
rs2413450
6 22 37074184 intron variant T/C snv 0.61 0.700 1.000 1 2009 2009
dbSNP: rs5756520
rs5756520
4 22 37112467 upstream gene variant G/A snv 0.41 0.700 1.000 1 2009 2009