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: rs121964983
rs121964983
AMT ; NICN1
1 1.000 0.120 3 49422237 missense variant T/C snv 0.810 1.000 8 1994 2017
dbSNP: rs386833556
rs386833556
GLDC
1 1.000 0.120 9 6553457 missense variant G/A;C snv 8.0E-06 0.810 1.000 8 1991 2019
dbSNP: rs772871471
rs772871471
GLDC
1 1.000 0.120 9 6587249 missense variant G/C snv 1.6E-05 0.810 1.000 7 1991 2019
dbSNP: rs121964985
rs121964985
AMT
1 1.000 0.120 3 49417892 missense variant C/A;T snv 4.0E-06; 7.6E-05 0.800 1.000 15 1994 2017
dbSNP: rs121964976
rs121964976
GLDC
3 0.882 0.160 9 6589230 missense variant C/G;T snv 8.7E-05; 2.3E-02 0.800 1.000 13 1991 2017
dbSNP: rs121964984
rs121964984
AMT
1 1.000 0.120 3 49419022 stop lost C/G snv 1.2E-05 0.800 1.000 12 1994 2017
dbSNP: rs1126422
rs1126422
AMT
1 1.000 0.120 3 49421551 missense variant G/A snv 4.0E-05 0.800 1.000 11 1994 2017
dbSNP: rs781466698
rs781466698
AMT
1 1.000 0.120 3 49419292 missense variant G/A snv 1.2E-05 0.800 1.000 11 1994 2017
dbSNP: rs121964982
rs121964982
AMT ; NICN1
1 1.000 0.120 3 49422223 missense variant C/A;T snv 4.8E-05 0.800 1.000 9 1994 2017
dbSNP: rs121964981
rs121964981
AMT
1 1.000 0.120 3 49419042 missense variant C/T snv 0.800 1.000 8 1994 2017
dbSNP: rs386833589
rs386833589
GLDC
1 1.000 0.120 9 6605145 missense variant C/G snv 4.0E-06 2.1E-05 0.800 1.000 8 1991 2017
dbSNP: rs386833682
rs386833682
AMT
1 1.000 0.120 3 49420248 missense variant T/A;C snv 4.0E-06; 8.0E-06 0.800 1.000 8 1994 2017
dbSNP: rs121964974
rs121964974
GLDC
1 1.000 0.120 9 6588417 missense variant C/A snv 2.1E-04 1.5E-04 0.800 1.000 6 1991 2017
dbSNP: rs150171524
rs150171524
GLDC
1 1.000 0.120 9 6602147 missense variant G/A;C snv 1.2E-05; 4.0E-06 0.800 1.000 6 1991 2017
dbSNP: rs386833583
rs386833583
GLDC
3 0.882 0.200 9 6610222 missense variant G/A snv 0.720 1.000 2 2011 2018
dbSNP: rs121964977
rs121964977
GLDC
1 1.000 0.120 9 6553420 missense variant G/A snv 8.0E-06 1.4E-05 0.710 1.000 1 2004 2004
dbSNP: rs386833565
rs386833565
GLDC
1 1.000 0.120 9 6540109 synonymous variant G/T snv 8.4E-05 8.4E-05 0.710 1.000 1 2005 2005
dbSNP: rs121964979
rs121964979
GLDC
2 0.925 0.160 9 6595109 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.700 1.000 6 2004 2017
dbSNP: rs1554648117
rs1554648117
GLDC
1 1.000 0.120 9 6605193 missense variant G/C snv 0.700 1.000 6 1991 2017
dbSNP: rs761957837
rs761957837
GLDC
1 1.000 0.120 9 6592871 missense variant G/A snv 8.0E-06 0.700 1.000 6 1991 2017
dbSNP: rs774093619
rs774093619
GLDC
1 1.000 0.120 9 6602138 missense variant T/C;G snv 4.0E-06 0.700 1.000 6 1991 2017
dbSNP: rs866625610
rs866625610
AMT
1 1.000 0.120 3 49417893 missense variant G/A snv 1.6E-05 1.4E-05 0.700 1.000 6 1994 2018
dbSNP: rs386833553
rs386833553
GLDC
1 1.000 0.120 9 6554673 missense variant C/T snv 3.5E-05 0.700 1.000 5 2006 2015
dbSNP: rs386833690
rs386833690
AMT
1 1.000 0.120 3 49417964 missense variant C/T snv 4.1E-06; 3.3E-05 0.700 1.000 5 2003 2017
dbSNP: rs181134220
rs181134220
AMT
1 1.000 0.120 3 49417974 splice acceptor variant C/G;T snv 1.7E-05 0.700 1.000 4 2001 2017