Source: ALL
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: rs393795
rs393795
4 0.851 0.160 5 1428399 intron variant G/T snv 0.28 0.020 1.000 2 2010 2010
dbSNP: rs1042098
rs1042098
1 1.000 0.160 5 1394700 3 prime UTR variant A/G snv 0.25 0.31 0.010 < 0.001 1 2010 2010
dbSNP: rs1800797
rs1800797
43 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 0.010 < 0.001 1 2011 2011
dbSNP: rs4073
rs4073
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 < 0.001 1 2011 2011
dbSNP: rs6276
rs6276
8 0.807 0.320 11 113410675 3 prime UTR variant C/T snv 0.54 0.010 1.000 1 2010 2010
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 1.000 1 1999 1999
dbSNP: rs8192284
rs8192284
19 0.724 0.720 1 154454494 missense variant A/C;T snv 0.010 < 0.001 1 2011 2011