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: rs281865026
rs281865026
GNPTAB
2 0.925 0.160 12 101770109 missense variant G/A snv 1.6E-05 1.4E-05 0.800 1.000 17 2005 2017
dbSNP: rs34159654
rs34159654
GNPTAB
3 0.882 0.160 12 101830666 missense variant T/G snv 2.0E-05 7.0E-06 0.800 1.000 16 2005 2017
dbSNP: rs137852900
rs137852900
GNPTAB
2 0.925 0.160 12 101770185 missense variant A/G snv 7.0E-06 0.800 1.000 15 2005 2017
dbSNP: rs137852895
rs137852895
GNPTAB
2 0.925 0.160 12 101770085 missense variant T/C;G snv 0.700 1.000 15 2005 2017
dbSNP: rs281864947
rs281864947
GNPTAB
2 0.925 0.160 12 101830632 missense variant G/T snv 8.0E-06 0.700 1.000 15 2005 2017
dbSNP: rs281864953
rs281864953
GNPTAB
2 0.925 0.160 12 101790019 missense variant C/A snv 0.700 1.000 15 2005 2017
dbSNP: rs281864970
rs281864970
GNPTAB
2 0.925 0.160 12 101770518 missense variant C/A;T snv 8.0E-06 0.700 1.000 15 2005 2017
dbSNP: rs281864973
rs281864973
GNPTAB
2 0.925 0.160 12 101770097 missense variant A/G snv 4.0E-06 0.700 1.000 15 2005 2017
dbSNP: rs281864975
rs281864975
GNPTAB
2 0.925 0.160 12 101768120 missense variant C/T snv 0.700 1.000 15 2005 2017
dbSNP: rs281864977
rs281864977
GNPTAB
2 0.925 0.160 12 101768064 missense variant A/C snv 0.700 1.000 15 2005 2017
dbSNP: rs281864979
rs281864979
GNPTAB
2 0.925 0.160 12 101768043 missense variant A/T snv 7.0E-06 0.700 1.000 15 2005 2017
dbSNP: rs281865002
rs281865002
GNPTAB
2 0.925 0.160 12 101761702 missense variant T/G snv 0.700 1.000 15 2005 2017
dbSNP: rs281865004
rs281865004
GNPTAB
2 0.925 0.160 12 101761613 missense variant G/A;T snv 0.700 1.000 15 2005 2017
dbSNP: rs281865005
rs281865005
GNPTAB
2 0.925 0.160 12 101761612 missense variant T/C snv 0.700 1.000 15 2005 2017
dbSNP: rs281865007
rs281865007
GNPTAB
2 0.925 0.160 12 101761209 missense variant T/C snv 4.0E-06 0.700 1.000 15 2005 2017
dbSNP: rs281865019
rs281865019
GNPTAB
2 0.925 0.160 12 101753516 missense variant T/C snv 0.700 1.000 15 2005 2017
dbSNP: rs34946266
rs34946266
GNPTAB
1 1.000 0.160 12 101786014 missense variant T/A;C snv 4.0E-06; 1.2E-05 0.700 1.000 15 2005 2017
dbSNP: rs34002892
rs34002892
GNPTAB
8 0.851 0.200 12 101753470 frameshift variant GA/- delins 5.1E-04 3.5E-04 0.700 1.000 6 2006 2016
dbSNP: rs137852897
rs137852897
GNPTAB
2 0.925 0.160 12 101753409 stop gained G/A snv 2.0E-05 1.4E-05 0.700 1.000 5 2005 2017
dbSNP: rs35333334
rs35333334
CHPT1 ; GNPTAB
2 0.925 0.160 12 101749181 stop gained G/A;T snv 4.0E-06 0.700 1.000 5 2005 2019
dbSNP: rs281865031
rs281865031
GNPTAB
2 0.925 0.160 12 101764201 splice donor variant C/T snv 2.8E-05 7.0E-06 0.700 1.000 4 2005 2019
dbSNP: rs397507448
rs397507448
GNPTAB
2 0.925 0.160 12 101768046 frameshift variant C/- delins 2.8E-05 0.700 1.000 4 2009 2017
dbSNP: rs200646278
rs200646278
GNPTAB
3 0.882 0.160 12 101770429 stop gained G/A snv 1.2E-05 7.0E-06 0.700 1.000 3 2010 2019
dbSNP: rs281864982
rs281864982
GNPTAB
2 0.925 0.160 12 101765158 stop gained G/A snv 0.700 1.000 3 2010 2015
dbSNP: rs36007394
rs36007394
GNPTAB
2 0.925 0.160 12 101766122 frameshift variant G/- delins 0.700 1.000 3 2006 2010