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: rs121908529
rs121908529
AGXT
4 0.851 0.160 2 240871433 missense variant G/A;C snv 5.6E-04 0.710 1.000 7 1990 2014
dbSNP: rs121908525
rs121908525
AGXT
7 0.790 0.160 2 240875159 missense variant T/C snv 4.4E-05 5.6E-05 0.710 1.000 5 2000 2007
dbSNP: rs180177273
rs180177273
AGXT
2 0.925 0.160 2 240875974 frameshift variant AG/-;AGAG delins 0.700 1.000 4 2004 2017
dbSNP: rs121908524
rs121908524
AGXT
2 0.925 0.160 2 240871379 missense variant T/A snv 9.0E-05 1.5E-04 0.700 1.000 2 2007 2012
dbSNP: rs180177201
rs180177201
AGXT
2 0.925 0.160 2 240868891 frameshift variant CC/-;C;CCC delins 0.700 1.000 2 2004 2017
dbSNP: rs569643246
rs569643246
AGXT
1 1.000 0.160 2 240878726 missense variant G/A snv 3.4E-05 1.4E-05 0.700 1.000 2 2014 2015
dbSNP: rs180177321
rs180177321
GRHPR
2 0.925 0.160 9 37432135 frameshift variant TG/- delins 0.700 1.000 1 2014 2014
dbSNP: rs119490108
rs119490108
GRHPR
2 0.925 0.160 9 37426545 stop gained C/T snv 1.4E-05 0.700 0
dbSNP: rs180177314
rs180177314
GRHPR
2 0.925 0.160 9 37429732 missense variant G/A snv 1.2E-04 4.2E-05 0.700 0
dbSNP: rs746419489
rs746419489
HOGA1
2 0.925 0.160 10 97584820 stop gained C/A;T snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs758304537
rs758304537
HOGA1
2 0.925 0.160 10 97584911 stop gained C/T snv 4.0E-05 2.1E-05 0.010 1.000 1 2012 2012