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: rs281864958
rs281864958
GNPTAB
1 1.000 0.160 12 101786038 missense variant A/T snv 0.700 1.000 15 2005 2017
dbSNP: rs281864959
rs281864959
GNPTAB
1 1.000 0.160 12 101780579 missense variant T/G snv 0.700 1.000 15 2005 2017
dbSNP: rs281865003
rs281865003
GNPTAB
1 1.000 0.160 12 101761696 missense variant T/C snv 0.700 1.000 15 2005 2017
dbSNP: rs281865006
rs281865006
GNPTAB
1 1.000 0.160 12 101761260 missense variant A/G snv 4.0E-06 0.800 1.000 15 2005 2017
dbSNP: rs281865010
rs281865010
GNPTAB
1 1.000 0.160 12 101760119 missense variant G/C snv 0.800 1.000 15 2005 2017
dbSNP: rs137852899
rs137852899
GNPTAB
1 1.000 0.160 12 101764236 stop gained C/T snv 0.700 0
dbSNP: rs142172397
rs142172397
GNPTAB
1 1.000 0.160 12 101764932 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1555277061
rs1555277061
GNPTAB
1 1.000 0.160 12 101830576 missense variant C/G snv 0.700 0
dbSNP: rs1566067386
rs1566067386
GNPTAB
1 1.000 0.160 12 101753486 frameshift variant G/- del 0.700 0
dbSNP: rs281864948
rs281864948
GNPTAB
1 1.000 0.160 12 101796759 frameshift variant C/- delins 0.700 0
dbSNP: rs281864949
rs281864949
GNPTAB
1 1.000 0.160 12 101796716 frameshift variant -/A delins 0.700 0
dbSNP: rs281864950
rs281864950
GNPTAB
1 1.000 0.160 12 101796712 stop gained A/T snv 4.0E-06 0.700 0
dbSNP: rs281864951
rs281864951
GNPTAB
1 1.000 0.160 12 101796709 frameshift variant T/- del 0.700 0
dbSNP: rs281864952
rs281864952
GNPTAB
1 1.000 0.160 12 101790027 inframe deletion AAC/- delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs281864956
rs281864956
GNPTG
1 1.000 0.160 16 1362238 frameshift variant G/- delins 0.700 0
dbSNP: rs281864957
rs281864957
GNPTAB
1 1.000 0.160 12 101786065 frameshift variant -/T ins 0.700 0
dbSNP: rs281864960
rs281864960
GNPTAB
1 1.000 0.160 12 101786009 splice region variant T/C;G snv 0.700 0
dbSNP: rs281864961
rs281864961
GNPTAB
1 1.000 0.160 12 101780564 frameshift variant CCTCC/- delins 0.700 0
dbSNP: rs281864962
rs281864962
GNPTAB
1 1.000 0.160 12 101780287 splice acceptor variant C/T snv 0.700 0
dbSNP: rs281864965
rs281864965
GNPTAB
1 1.000 0.160 12 101780164 frameshift variant GAGGA/- delins 0.700 0
dbSNP: rs281864966
rs281864966
GNPTAB
1 1.000 0.160 12 101771071 frameshift variant -/T delins 0.700 0
dbSNP: rs281864967
rs281864967
GNPTAB
1 1.000 0.160 12 101771014 frameshift variant -/T delins 0.700 0
dbSNP: rs281864968
rs281864968
GNPTAB
1 1.000 0.160 12 101770579 stop gained G/A snv 0.700 0
dbSNP: rs281864971
rs281864971
GNPTAB
1 1.000 0.160 12 101770110 frameshift variant -/AGCC delins 4.0E-06 0.700 0
dbSNP: rs281864972
rs281864972
GNPTAB
1 1.000 0.160 12 101770098 frameshift variant -/A delins 4.0E-06 0.700 0