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: 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
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: rs1060499689
rs1060499689
GNPTAB
3 0.925 0.160 12 101753435 missense variant G/A snv 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: rs1327876395
rs1327876395
GNPTAB
2 0.925 0.160 12 101770995 splice donor variant C/A snv 4.0E-06 0.700 0
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: rs137852896
rs137852896
GNPTAB
2 0.925 0.160 12 101789951 stop gained G/A snv 7.0E-06 0.700 0
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: rs137852898
rs137852898
GNPTAB
2 0.925 0.160 12 101760106 stop gained G/C 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: 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: rs1429181351
rs1429181351
GNPTAB
4 0.925 0.160 12 101764957 frameshift variant TA/- del 4.0E-06 0.700 0
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: rs1555267839
rs1555267839
CHPT1 ; GNPTAB
2 0.925 0.160 12 101749191 stop gained C/T snv 0.700 0
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: rs1555269488
rs1555269488
GNPTAB
4 0.882 0.200 12 101764241 frameshift variant -/A delins 0.700 0
dbSNP: rs1555270066
rs1555270066
GNPTAB
2 0.925 0.160 12 101768055 stop gained CC/- delins 0.700 0
dbSNP: rs1555270321
rs1555270321
GNPTAB
2 0.925 0.160 12 101770487 frameshift variant C/- delins 0.700 0