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: rs1555269488
rs1555269488
GNPTAB
4 0.882 0.200 12 101764241 frameshift variant -/A delins 0.700 0
dbSNP: rs281865032
rs281865032
GNPTAB
1 1.000 0.160 12 101761343 frameshift variant -/A delins 0.700 0
dbSNP: rs748809942
rs748809942
GNPTAB
2 0.925 0.160 12 101770498 frameshift variant -/ATGC delins 0.700 1.000 1 2014 2014
dbSNP: rs1555268712
rs1555268712
GNPTAB
3 0.882 0.160 12 101757459 coding sequence variant -/ATTTTAGAACAGTGCTTAATAGACAAAATATTGTAGAATTATAAAAAAGCCAGACCTTTGTGATTACTCTTATACTAAACAAAGGGAGTATGCGTGTACTACTTACCTATATTTGTTTTTGTCCTTATATGCTTTGTGGATTTTGTCAGTTACTGGTTTACAGTTTGTTACTAGACTTTTAGTGACCGGTGGCTATGAGAAAATATAA delins 0.700 0
dbSNP: rs1555269154
rs1555269154
GNPTAB
7 0.851 0.280 12 101761307 frameshift variant -/CTTTGTGA delins 0.700 0
dbSNP: rs281865027
rs281865027
GNPTAB
2 0.925 0.160 12 101765291 frameshift variant -/G ins 0.700 0
dbSNP: rs281865033
rs281865033
GNPTAB
1 1.000 0.160 12 101760133 frameshift variant -/G ins 0.700 0
dbSNP: rs1555271865
rs1555271865
GNPTAB
5 0.925 0.160 12 101786204 frameshift variant -/T delins 0.700 0
dbSNP: rs281865030
rs281865030
GNPTAB
1 1.000 0.160 12 101764257 frameshift variant -/T delins 0.700 0
dbSNP: rs752874974
rs752874974
GNPTAB
2 0.925 0.160 12 101764299 frameshift variant -/T delins 0.700 0
dbSNP: rs34256381
rs34256381
GNPTAB
1 1.000 0.160 12 101760044 frameshift variant -/TAGG delins 0.700 0
dbSNP: rs34924076
rs34924076
GNPTAB
1 1.000 0.160 12 101765175 frameshift variant -/TATATATA delins 0.700 0
dbSNP: rs1060499684
rs1060499684
GNPTAB
4 0.882 0.200 12 101753525 frameshift variant A/- del 0.700 0
dbSNP: rs1555270428
rs1555270428
GNPTAB
2 0.925 0.160 12 101771125 frameshift variant A/- delins 0.700 0
dbSNP: rs281864977
rs281864977
GNPTAB
2 0.925 0.160 12 101768064 missense variant A/C snv 0.700 1.000 15 2005 2017
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: 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: rs144060383
rs144060383
GNPTAB
1 1.000 0.160 12 101764563 missense variant A/C snv 2.8E-05 2.1E-05 0.700 0
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: 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: rs1060499688
rs1060499688
GNPTAB
4 0.882 0.200 12 101753399 missense variant A/G snv 0.700 0
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: 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: rs1555271215
rs1555271215
GNPTAB
2 0.925 0.160 12 101780150 splice donor variant A/T snv 0.700 0
dbSNP: rs34161232
rs34161232
GNPTAB
1 1.000 0.160 12 101764729 frameshift variant A/TTT delins 0.700 0