Gene: AMT ×
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: rs121964983
rs121964983
AMT ; NICN1
1 1.000 0.120 3 49422237 missense variant T/C snv 0.810 1.000 8 1994 2017
dbSNP: rs121964985
rs121964985
AMT
1 1.000 0.120 3 49417892 missense variant C/A;T snv 4.0E-06; 7.6E-05 0.800 1.000 15 1994 2017
dbSNP: rs121964984
rs121964984
AMT
1 1.000 0.120 3 49419022 stop lost C/G snv 1.2E-05 0.800 1.000 12 1994 2017
dbSNP: rs1126422
rs1126422
AMT
1 1.000 0.120 3 49421551 missense variant G/A snv 4.0E-05 0.800 1.000 11 1994 2017
dbSNP: rs781466698
rs781466698
AMT
1 1.000 0.120 3 49419292 missense variant G/A snv 1.2E-05 0.800 1.000 11 1994 2017
dbSNP: rs121964982
rs121964982
AMT ; NICN1
1 1.000 0.120 3 49422223 missense variant C/A;T snv 4.8E-05 0.800 1.000 9 1994 2017
dbSNP: rs121964981
rs121964981
AMT
1 1.000 0.120 3 49419042 missense variant C/T snv 0.800 1.000 8 1994 2017
dbSNP: rs386833682
rs386833682
AMT
1 1.000 0.120 3 49420248 missense variant T/A;C snv 4.0E-06; 8.0E-06 0.800 1.000 8 1994 2017
dbSNP: rs866625610
rs866625610
AMT
1 1.000 0.120 3 49417893 missense variant G/A snv 1.6E-05 1.4E-05 0.700 1.000 6 1994 2018
dbSNP: rs386833690
rs386833690
AMT
1 1.000 0.120 3 49417964 missense variant C/T snv 4.1E-06; 3.3E-05 0.700 1.000 5 2003 2017
dbSNP: rs181134220
rs181134220
AMT
1 1.000 0.120 3 49417974 splice acceptor variant C/G;T snv 1.7E-05 0.700 1.000 4 2001 2017
dbSNP: rs386833679
rs386833679
AMT ; NICN1
1 1.000 0.120 3 49422145 missense variant G/A;T snv 3.6E-05 0.700 1.000 3 2004 2017
dbSNP: rs1553638266
rs1553638266
AMT
1 1.000 0.120 3 49417869 frameshift variant C/-;CC delins 0.700 1.000 2 2014 2017
dbSNP: rs386833680
rs386833680
AMT ; NICN1
1 1.000 0.120 3 49422132 missense variant G/A snv 8.0E-06 6.3E-05 0.700 1.000 2 2006 2015
dbSNP: rs121964986
rs121964986
AMT
1 1.000 0.120 3 49419382 stop gained G/A snv 0.700 1.000 1 2000 2000
dbSNP: rs1553638247
rs1553638247
AMT
1 1.000 0.120 3 49417816 splice donor variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs386833684
rs386833684
AMT
1 1.000 0.120 3 49420209 splice donor variant A/G snv 4.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs541594122
rs541594122
AMT
1 1.000 0.120 3 49419258 splice donor variant A/C;T snv 0.700 1.000 1 2006 2006
dbSNP: rs558998633
rs558998633
AMT
1 1.000 0.120 3 49419764 stop gained G/A snv 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs757918826
rs757918826
AMT
1 1.000 0.120 3 49419054 missense variant C/T snv 1.6E-05 2.8E-05 0.700 1.000 1 2014 2014
dbSNP: rs1056820947
rs1056820947
AMT
1 1.000 0.120 3 49417965 missense variant G/A snv 4.1E-06 0.700 0
dbSNP: rs1238918084
rs1238918084
AMT
1 1.000 0.120 3 49417717 splice acceptor variant -/C delins 1.2E-05 6.3E-05 0.700 0
dbSNP: rs1483890972
rs1483890972
AMT ; NICN1
1 1.000 0.120 3 49422197 frameshift variant C/- delins 0.700 0
dbSNP: rs1553638405
rs1553638405
AMT
1 1.000 0.120 3 49418973 frameshift variant A/- del 0.700 0
dbSNP: rs1553638408
rs1553638408
AMT
1 1.000 0.120 3 49418998 frameshift variant -/A delins 0.700 0