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: rs386833517
rs386833517
GLDC
1 1.000 0.120 9 6604637 stop gained G/A;C snv 1.6E-05; 4.0E-06 0.700 1.000 4 2006 2017
dbSNP: rs386833521
rs386833521
GLDC
1 1.000 0.120 9 6592982 stop gained G/A snv 2.0E-05 7.2E-06 0.700 1.000 3 2006 2015
dbSNP: rs386833531
rs386833531
GLDC
1 1.000 0.120 9 6587205 stop gained G/A snv 1.2E-05 0.700 1.000 3 2006 2015
dbSNP: rs191905539
rs191905539
GLDC
1 1.000 0.120 9 6610328 stop gained C/A snv 2.0E-05 1.2E-04 0.700 1.000 2 2015 2017
dbSNP: rs1163356968
rs1163356968
GLDC
1 1.000 0.120 9 6645476 stop gained C/G;T snv 1.4E-05 0.700 1.000 1 2017 2017
dbSNP: rs121964986
rs121964986
AMT
1 1.000 0.120 3 49419382 stop gained G/A snv 0.700 1.000 1 2000 2000
dbSNP: rs1226098656
rs1226098656
GLDC
1 1.000 0.120 9 6595081 stop gained G/A;T snv 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1430968530
rs1430968530
GLDC
1 1.000 0.120 9 6540102 stop gained T/A snv 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1554643360
rs1554643360
GLDC
1 1.000 0.120 9 6550845 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1554646529
rs1554646529
GLDC
1 1.000 0.120 9 6587268 stop gained C/A snv 0.700 1.000 1 2017 2017
dbSNP: rs373618804
rs373618804
GLDC
1 1.000 0.120 9 6553508 stop gained T/A snv 4.0E-06 7.6E-06 0.700 1.000 1 2017 2017
dbSNP: rs558998633
rs558998633
AMT
1 1.000 0.120 3 49419764 stop gained G/A snv 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs570097430
rs570097430
GLDC
1 1.000 0.120 9 6602156 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs751025203
rs751025203
GLDC
1 1.000 0.120 9 6565392 stop gained G/A snv 4.0E-06 1.4E-05 0.700 1.000 1 2017 2017
dbSNP: rs777365335
rs777365335
GLDC
1 1.000 0.120 9 6592910 stop gained C/A;G snv 2.8E-05 2.1E-05 0.700 1.000 1 2017 2017
dbSNP: rs1477860542
rs1477860542
GLDC
1 1.000 0.120 9 6645477 stop gained C/A;T snv 0.700 0
dbSNP: rs1554643354
rs1554643354
GLDC
1 1.000 0.120 9 6550828 stop gained G/C snv 0.700 0
dbSNP: rs1554652870
rs1554652870
GLDC
1 1.000 0.120 9 6645496 stop gained G/A snv 0.700 0
dbSNP: rs1559530507
rs1559530507
AMT ; NICN1
1 1.000 0.120 3 49422198 stop gained C/T snv 0.700 0
dbSNP: rs386833537
rs386833537
GLDC
1 1.000 0.120 9 6558615 stop gained G/A snv 0.700 0
dbSNP: rs386833541
rs386833541
GLDC
1 1.000 0.120 9 6556200 stop gained GAT/TAAACCAGGA delins 0.700 0
dbSNP: rs386833557
rs386833557
GLDC
1 1.000 0.120 9 6553411 stop gained C/T snv 0.700 0
dbSNP: rs386833564
rs386833564
GLDC
1 1.000 0.120 9 6540142 stop gained A/C;G snv 8.0E-06 0.700 0
dbSNP: rs386833567
rs386833567
GLDC
1 1.000 0.120 9 6540060 stop gained G/A snv 0.700 0
dbSNP: rs386833572
rs386833572
GLDC
1 1.000 0.120 9 6534735 stop gained -/T delins 4.0E-06; 4.0E-06 7.0E-06 0.700 0