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: 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: 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: 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: 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
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: rs281865024
rs281865024
GNPTAB
3 0.882 0.160 12 101780574 frameshift variant TCTG/- delins 0.700 1.000 2 2006 2015
dbSNP: rs1408113895
rs1408113895
GNPTAB
2 0.925 0.160 12 101830577 frameshift variant G/- delins 0.700 1.000 1 2019 2019
dbSNP: rs281864992
rs281864992
GNPTAB
2 0.925 0.160 12 101764641 frameshift variant TT/- delins 0.700 1.000 1 2010 2010
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