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: 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: 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: rs1060499679
rs1060499679
GNPTAB
5 0.851 0.280 12 101770496 inframe deletion GTG/- delins 0.700 0
dbSNP: rs112543062
rs112543062
GNPTAB
6 0.851 0.280 12 101770161 missense variant T/C;G snv 1.2E-05 0.700 0
dbSNP: rs1555269154
rs1555269154
GNPTAB
7 0.851 0.280 12 101761307 frameshift variant -/CTTTGTGA delins 0.700 0
dbSNP: rs281864980
rs281864980
GNPTAB
4 0.851 0.160 12 101766189 missense variant C/T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs397507562
rs397507562
GNPTAB
6 0.851 0.240 12 101757311 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs546802775
rs546802775
GNPTAB
5 0.851 0.240 12 101765329 intron variant TTT/-;TT;TTTT delins 5.1E-06 0.700 0
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: 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: 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: 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
dbSNP: rs1060499685
rs1060499685
GNPTAB
5 0.882 0.160 12 101764547 frameshift variant AA/- delins 0.700 0
dbSNP: rs1060499687
rs1060499687
GNPTAB
3 0.882 0.160 12 101757657 splice acceptor variant GC/AT mnv 0.700 0
dbSNP: rs1060499688
rs1060499688
GNPTAB
4 0.882 0.200 12 101753399 missense variant A/G snv 0.700 0
dbSNP: rs1555268712
rs1555268712
GNPTAB
3 0.882 0.160 12 101757459 coding sequence variant -/ATTTTAGAACAGTGCTTAATAGACAAAATATTGTAGAATTATAAAAAAGCCAGACCTTTGTGATTACTCTTATACTAAACAAAGGGAGTATGCGTGTACTACTTACCTATATTTGTTTTTGTCCTTATATGCTTTGTGGATTTTGTCAGTTACTGGTTTACAGTTTGTTACTAGACTTTTAGTGACCGGTGGCTATGAGAAAATATAA delins 0.700 0
dbSNP: rs1555269488
rs1555269488
GNPTAB
4 0.882 0.200 12 101764241 frameshift variant -/A delins 0.700 0
dbSNP: rs750240374
rs750240374
GNPTAB
5 0.882 0.240 12 101766103 missense variant C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs751953529
rs751953529
GNPTAB
6 0.882 0.200 12 101786012 missense variant C/T snv 4.0E-06 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: 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