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: 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: rs281864953
rs281864953
GNPTAB
2 0.925 0.160 12 101790019 missense variant C/A snv 0.800 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 0.800 1.000 15 2005 2017
dbSNP: rs281865006
rs281865006
GNPTAB
1 1.000 0.160 12 101761260 missense variant A/G snv 4.0E-06 0.800 1.000 15 2005 2017
dbSNP: rs281865010
rs281865010
GNPTAB
1 1.000 0.160 12 101760119 missense variant G/C snv 0.800 1.000 15 2005 2017
dbSNP: rs281864958
rs281864958
GNPTAB
1 1.000 0.160 12 101786038 missense variant A/T snv 0.700 1.000 15 2005 2017
dbSNP: rs281864959
rs281864959
GNPTAB
1 1.000 0.160 12 101780579 missense variant T/G snv 0.700 1.000 15 2005 2017
dbSNP: rs281865003
rs281865003
GNPTAB
1 1.000 0.160 12 101761696 missense variant T/C snv 0.700 1.000 15 2005 2017
dbSNP: rs281865026
rs281865026
GNPTAB
2 0.925 0.160 12 101770109 missense variant G/A snv 1.6E-05 1.4E-05 0.700 1.000 7 2006 2016
dbSNP: rs34159654
rs34159654
GNPTAB
3 0.882 0.160 12 101830666 missense variant T/G snv 2.0E-05 7.0E-06 0.700 1.000 7 2006 2015
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: rs36007394
rs36007394
GNPTAB
2 0.925 0.160 12 101766122 frameshift variant G/- delins 0.700 1.000 4 2006 2010
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: rs397507447
rs397507447
GNPTAB
2 0.925 0.160 12 101770182 stop gained G/A;T snv 4.0E-05; 4.0E-06 0.700 1.000 3 2010 2013
dbSNP: rs78347057
rs78347057
GNPTAB
2 0.925 0.160 12 101796744 stop gained G/A;T snv 8.0E-06; 2.6E-03 0.700 1.000 3 2010 2015
dbSNP: rs142065232
rs142065232
GNPTAB
2 0.925 0.160 12 101757236 stop gained A/T snv 2.0E-05 1.4E-05 0.700 1.000 2 2010 2015
dbSNP: rs281864983
rs281864983
GNPTAB
2 0.925 0.160 12 101764955 frameshift variant CTAA/- delins 0.700 1.000 2 2009 2010
dbSNP: rs281865001
rs281865001
GNPTAB
2 0.925 0.160 12 101764200 splice donor variant A/C snv 4.0E-06 2.1E-05 0.700 1.000 2 2010 2015
dbSNP: rs281865009
rs281865009
GNPTAB
3 0.882 0.160 12 101761171 stop gained G/A snv 4.0E-06 1.4E-05 0.700 1.000 2 2010 2012
dbSNP: rs281865024
rs281865024
GNPTAB
3 0.882 0.160 12 101780574 frameshift variant TCTG/- delins 0.700 1.000 2 2006 2015