Gene: GNPTAB ×
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: 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: 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
dbSNP: rs281865029
rs281865029
GNPTAB
2 0.925 0.160 12 101764342 frameshift variant CT/- delins 8.0E-06 7.0E-06 0.700 1.000 2 2005 2017
dbSNP: rs34788341
rs34788341
GNPTAB
2 0.925 0.160 12 101757566 splice region variant A/C snv 4.8E-05 4.9E-05 0.700 1.000 2 2006 2010
dbSNP: rs1408113895
rs1408113895
GNPTAB
2 0.925 0.160 12 101830577 frameshift variant G/- delins 0.700 1.000 1 2019 2019
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 1 2010 2010
dbSNP: rs281864954
rs281864954
GNPTAB
2 0.925 0.160 12 101788568 frameshift variant GT/- delins 2.1E-05 0.700 1.000 1 2010 2010
dbSNP: rs281864955
rs281864955
GNPTAB
2 0.925 0.160 12 101786142 frameshift variant G/- delins 7.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs281864963
rs281864963
GNPTAB
2 0.925 0.160 12 101780272 frameshift variant CTTT/- delins 7.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs281864969
rs281864969
GNPTAB
2 0.925 0.160 12 101770519 stop gained G/A snv 8.0E-06 7.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs281864992
rs281864992
GNPTAB
2 0.925 0.160 12 101764641 frameshift variant TT/- delins 0.700 1.000 1 2010 2010
dbSNP: rs281864996
rs281864996
GNPTAB
10 0.807 0.280 12 101764363 frameshift variant CTTTT/-;CTTTTCTTTT delins 2.8E-05 7.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs281864999
rs281864999
GNPTAB
2 0.925 0.160 12 101764224 frameshift variant TTT/-;TT;TTTT delins 0.700 1.000 1 2009 2009
dbSNP: rs281865018
rs281865018
GNPTAB
2 0.925 0.160 12 101753528 frameshift variant AAAC/- delins 8.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs34901902
rs34901902
GNPTAB
2 0.925 0.160 12 101764860 frameshift variant GAGTT/- delins 0.700 1.000 1 2006 2006
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 1 2009 2009
dbSNP: rs748809942
rs748809942
GNPTAB
2 0.925 0.160 12 101770498 frameshift variant -/ATGC delins 0.700 1.000 1 2014 2014
dbSNP: rs875989952
rs875989952
GNPTAB
2 0.925 0.160 12 101757659 splice acceptor variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1060499679
rs1060499679
GNPTAB
5 0.851 0.280 12 101770496 inframe deletion GTG/- delins 0.700 0
dbSNP: rs1060499680
rs1060499680
GNPTAB
6 0.882 0.200 12 101768036 splice donor variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs1060499681
rs1060499681
GNPTAB
6 0.882 0.200 12 101764303 frameshift variant C/- del 0.700 0
dbSNP: rs1060499684
rs1060499684
GNPTAB
4 0.882 0.200 12 101753525 frameshift variant A/- del 0.700 0