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: rs137852885
rs137852885
GNPTG
1 1.000 0.160 16 1361954 missense variant G/A snv 8.0E-06 7.0E-06 0.800 1.000 7 2000 2016
dbSNP: rs193302848
rs193302848
GNPTG
1 1.000 0.160 16 1361760 stop gained C/T snv 8.0E-06 1.4E-05 0.700 1.000 3 2004 2016
dbSNP: rs756959430
rs756959430
GNPTG
1 1.000 0.160 16 1362288 frameshift variant C/-;CC delins 0.700 1.000 2 2000 2013
dbSNP: rs763678034
rs763678034
GNPTG
1 1.000 0.160 16 1362048 stop gained G/A;C;T snv 1.6E-05 0.700 1.000 2 2014 2016
dbSNP: rs1260510628
rs1260510628
GNPTG
1 1.000 0.160 16 1362535 splice donor variant G/C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs756225251
rs756225251
GNPTG
1 1.000 0.160 16 1362526 frameshift variant -/C delins 2.8E-05; 1.2E-05; 4.0E-06 0.700 1.000 1 2004 2004
dbSNP: rs1060499690
rs1060499690
GNPTG
2 0.925 0.160 16 1362044 stop gained G/A snv 0.700 0
dbSNP: rs1060499691
rs1060499691
GNPTG
2 1.000 0.160 16 1361802 splice region variant G/A snv 0.700 0
dbSNP: rs112850896
rs112850896
GNPTG
1 1.000 0.160 16 1361871 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs137852884
rs137852884
GNPTG
1 1.000 0.160 16 1362053 stop gained G/A snv 0.700 0
dbSNP: rs1385935677
rs1385935677
UNKL ; GNPTG
1 1.000 0.160 16 1362907 splice donor variant G/T snv 0.700 0
dbSNP: rs1555450716
rs1555450716
GNPTG ; TSR3
1 1.000 0.160 16 1352160 splice donor variant G/A snv 0.700 0
dbSNP: rs1555450744
rs1555450744
GNPTG ; TSR3
1 1.000 0.160 16 1352308 splice donor variant T/C snv 0.700 0
dbSNP: rs1555451608
rs1555451608
GNPTG
1 1.000 0.160 16 1361799 splice donor variant T/A;C snv 0.700 0
dbSNP: rs1555451643
rs1555451643
GNPTG
1 1.000 0.160 16 1361879 frameshift variant AT/- delins 0.700 0
dbSNP: rs1555451866
rs1555451866
GNPTG
1 1.000 0.160 16 1362205 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1555451988
rs1555451988
GNPTG
1 1.000 0.160 16 1362533 frameshift variant -/C ins 0.700 0
dbSNP: rs1555452081
rs1555452081
UNKL ; GNPTG
1 1.000 0.160 16 1362834 stop gained G/T snv 0.700 0
dbSNP: rs193302847
rs193302847
GNPTG
1 1.000 0.160 16 1362037 splice acceptor variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs193302849
rs193302849
GNPTG
1 1.000 0.160 16 1362062 inframe deletion ACA/- delins 0.700 0
dbSNP: rs193302850
rs193302850
GNPTG
1 1.000 0.160 16 1362098 frameshift variant GACGCCTGCCGTT/- delins 0.700 0
dbSNP: rs193302851
rs193302851
GNPTG
1 1.000 0.160 16 1362316 frameshift variant -/C delins 0.700 0
dbSNP: rs193302853
rs193302853
GNPTG
1 1.000 0.160 16 1362562 non coding transcript exon variant GTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC/- del 0.700 0
dbSNP: rs193302854
rs193302854
GNPTG
1 1.000 0.160 16 1362610 splice acceptor variant G/C;T snv 0.700 0
dbSNP: rs193302855
rs193302855
GNPTG
1 1.000 0.160 16 1362609 splice acceptor variant A/G snv 1.2E-05 4.2E-05 0.700 0