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: rs1800471
rs1800471
TGFB1
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2007 2007
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2007 2007
dbSNP: rs3025039
rs3025039
VEGFA
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.010 1.000 1 2009 2009
dbSNP: rs10434
rs10434
VEGFA
17 0.701 0.480 6 43785475 3 prime UTR variant A/G snv 0.59 0.010 1.000 1 2009 2009
dbSNP: rs975618
rs975618
EYS
1 1.000 0.040 6 65114686 intron variant G/A snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs7775478
rs7775478
EYS
1 1.000 0.040 6 65151300 intron variant G/T snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs16896391
rs16896391
EYS
1 1.000 0.040 6 65196105 intron variant T/C snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2008 2008