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: rs2294305
rs2294305
HAO1
1 1.000 0.080 20 7888809 intron variant T/C snv 7.5E-02 0.700 1.000 1 2014 2014
dbSNP: rs2423326
rs2423326
HAO1
1 1.000 0.080 20 7912993 intron variant A/G snv 0.22 0.700 1.000 1 2014 2014
dbSNP: rs6055363
rs6055363
HAO1
1 1.000 0.080 20 7882896 downstream gene variant A/G snv 8.6E-02 0.700 1.000 1 2014 2014
dbSNP: rs6118004
rs6118004
HAO1
1 1.000 0.080 20 7916402 intron variant C/T snv 0.31 0.700 1.000 1 2014 2014
dbSNP: rs6140463
rs6140463
HAO1
1 1.000 0.080 20 7928519 intron variant G/A;T snv 0.700 1.000 1 2014 2014