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: rs374016704
rs374016704
GDF1 ; UPF1 ; CERS1
3 0.925 0.120 19 18868625 missense variant A/G snv 5.1E-04 2.7E-04 0.700 1.000 2 2016 2017
dbSNP: rs121434422
rs121434422
GDF1 ; CERS1
3 0.882 0.120 19 18869035 stop gained G/A;C;T snv 0.700 1.000 1 2010 2010
dbSNP: rs137955225
rs137955225
MMP21
1 1.000 0.120 10 125770368 stop gained C/T snv 1.1E-04 2.6E-04 0.700 1.000 1 2015 2015
dbSNP: rs145119918
rs145119918
MMP21
1 1.000 0.120 10 125767570 stop gained G/A;C snv 1.6E-04; 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs121909283
rs121909283
NODAL
4 0.882 0.120 10 70435399 stop gained C/A;T snv 3.1E-04 0.700 0
dbSNP: rs555563029
rs555563029
NODAL
1 1.000 0.120 10 70435353 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs768027510
rs768027510
GDF1 ; UPF1 ; CERS1
1 1.000 0.120 19 18868666 frameshift variant AGAA/- delins 5.4E-06; 6.5E-05 4.9E-05 0.700 0
dbSNP: rs1805128
rs1805128
KCNE1
10 0.776 0.160 21 34449382 missense variant C/T snv 9.4E-03 0.010 1.000 1 2013 2013