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: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 < 0.001 1 2008 2008
dbSNP: rs1349265
rs1349265
THRB
3 1.000 0.040 3 24117896 3 prime UTR variant A/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs6787255
rs6787255
THRB
1 1.000 0.040 3 24338150 intron variant C/A snv 0.53 0.010 1.000 1 2012 2012
dbSNP: rs71626704
rs71626704
FLG ; FLG-AS1
2 0.925 0.120 1 152308841 missense variant G/T snv 2.3E-02 1.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs7635707
rs7635707
THRB
1 1.000 0.040 3 24339895 intron variant T/G snv 0.50 0.010 1.000 1 2012 2012
dbSNP: rs76413899
rs76413899
FLG ; FLG-AS1
2 0.925 0.120 1 152312377 missense variant C/T snv 2.4E-03 9.0E-04 0.010 1.000 1 2017 2017
dbSNP: rs844107
rs844107
THRB
1 1.000 0.040 3 24121530 3 prime UTR variant T/C snv 0.45 0.010 1.000 1 2012 2012
dbSNP: rs9310738
rs9310738
THRB
1 1.000 0.040 3 24328906 intron variant T/C snv 0.47 0.010 1.000 1 2012 2012
dbSNP: rs9812034
rs9812034
THRB
1 1.000 0.040 3 24329384 intron variant T/G snv 0.48 0.010 1.000 1 2012 2012