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: rs72552772
rs72552772
POR
1 1.000 0.120 7 75986165 missense variant G/A;T snv 4.1E-05 0.800 1.000 2 2004 2004
dbSNP: rs28931608
rs28931608
POR
3 0.882 0.120 7 75985179 missense variant G/A;C snv 5.2E-05 0.720 1.000 7 2004 2018
dbSNP: rs121912974
rs121912974
POR
4 0.882 0.240 7 75983548 missense variant G/C snv 2.4E-04 2.2E-04 0.710 1.000 1 2016 2016
dbSNP: rs936203749
rs936203749
POR
1 1.000 0.120 7 75954182 splice donor variant T/C snv 1.4E-05 0.700 1.000 3 2004 2011
dbSNP: rs781805159
rs781805159
POR
1 1.000 0.120 7 75985172 frameshift variant C/- del 2.1E-05 2.1E-05 0.700 1.000 2 2009 2012
dbSNP: rs121912976
rs121912976
POR
3 0.882 0.240 7 75985795 missense variant G/A;C snv 3.4E-05 0.700 0
dbSNP: rs1563435458
rs1563435458
POR
1 1.000 0.120 7 75985750 frameshift variant -/CCTTCAAGGCCACCACGCCTGTCATCATGGTGGGCCCCGGCACCGGGGT delins 0.700 0
dbSNP: rs28931607
rs28931607
POR
1 1.000 0.120 7 75985959 missense variant G/A snv 2.1E-05 0.700 0
dbSNP: rs72552771
rs72552771
POR
1 1.000 0.120 7 75981072 missense variant T/A;G snv 0.700 0
dbSNP: rs201405525
rs201405525
DECR1
3 0.925 0.240 8 90044993 missense variant G/A;C snv 4.5E-04; 4.0E-06 0.010 1.000 1 2016 2016