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: rs121909730
rs121909730
GLUD1
4 0.882 0.040 10 87053380 missense variant G/A snv 0.810 1.000 5 1998 2006
dbSNP: rs121909731
rs121909731
GLUD1
7 0.851 0.120 10 87057692 missense variant G/A;C snv 4.0E-06 0.800 1.000 7 1998 2016
dbSNP: rs121909737
rs121909737
GLUD1
1 1.000 0.040 10 87061009 missense variant C/T snv 0.800 1.000 6 1998 2018
dbSNP: rs121909732
rs121909732
GLUD1
1 1.000 0.040 10 87053398 missense variant A/G snv 0.800 1.000 4 1998 2001
dbSNP: rs121909733
rs121909733
GLUD1
1 1.000 0.040 10 87053404 missense variant C/T snv 0.800 1.000 4 1998 2001
dbSNP: rs121909734
rs121909734
GLUD1
1 1.000 0.040 10 87053403 missense variant C/A;T snv 0.800 1.000 4 1998 2001
dbSNP: rs121909735
rs121909735
GLUD1
1 1.000 0.040 10 87060928 missense variant T/G snv 0.800 1.000 4 1998 2001
dbSNP: rs121909736
rs121909736
GLUD1
1 1.000 0.040 10 87061021 missense variant C/T snv 0.800 1.000 4 1998 2001
dbSNP: rs1554906133
rs1554906133
GLUD1
2 0.925 0.120 10 87061018 missense variant T/C snv 0.700 1.000 4 1998 2001
dbSNP: rs56275071
rs56275071
GLUD1
4 0.882 0.120 10 87062757 missense variant G/A snv 0.700 0
dbSNP: rs797045597
rs797045597
GLUD1
1 1.000 0.040 10 87053401 missense variant C/T snv 0.700 0