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: 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
dbSNP: rs1553638457
rs1553638457
AMT
1 1.000 0.120 3 49419239 splice donor variant CTTCTTGACACACCTCCACACCA/- delins 0.700 0
dbSNP: rs1553638460
rs1553638460
AMT
1 1.000 0.120 3 49419259 splice donor variant C/T snv 0.700 0
dbSNP: rs1553638649
rs1553638649
AMT
1 1.000 0.120 3 49420333 frameshift variant CA/- delins 0.700 0
dbSNP: rs1553638822
rs1553638822
AMT ; NICN1
1 1.000 0.120 3 49422214 frameshift variant CCATT/- del 0.700 0
dbSNP: rs1553638904
rs1553638904
AMT ; NICN1
1 1.000 0.120 3 49422433 splice donor variant TTAC/- delins 0.700 0
dbSNP: rs1559530507
rs1559530507
AMT ; NICN1
1 1.000 0.120 3 49422198 stop gained C/T snv 0.700 0
dbSNP: rs386833677
rs386833677
AMT ; NICN1
1 1.000 0.120 3 49422505 5 prime UTR variant G/A snv 1.5E-05 3.5E-05 0.700 0
dbSNP: rs386833678
rs386833678
AMT ; NICN1
1 1.000 0.120 3 49422214 frameshift variant C/- delins 0.700 0
dbSNP: rs386833681
rs386833681
AMT
1 1.000 0.120 3 49421573 splice acceptor variant C/G snv 0.700 0
dbSNP: rs386833683
rs386833683
AMT
1 1.000 0.120 3 49420216 inframe deletion GAGGGCCAAATCTTT/- delins 2.0E-05 1.4E-05 0.700 0
dbSNP: rs386833685
rs386833685
AMT
1 1.000 0.120 3 49419725 frameshift variant G/- delins 0.700 0
dbSNP: rs386833686
rs386833686
AMT ; NICN1
1 1.000 0.120 3 49422392 frameshift variant G/-;GG;GGGG delins 0.700 0
dbSNP: rs386833687
rs386833687
AMT ; NICN1
1 1.000 0.120 3 49422390 frameshift variant C/- delins 0.700 0
dbSNP: rs386833688
rs386833688
AMT ; NICN1
1 1.000 0.120 3 49422388 frameshift variant G/- delins 0.700 0
dbSNP: rs386833689
rs386833689
AMT
1 1.000 0.120 3 49419282 missense variant T/C snv 0.700 0
dbSNP: rs386833691
rs386833691
AMT
1 1.000 0.120 3 49417879 inframe deletion TCA/- delins 0.700 0
dbSNP: rs386833692
rs386833692
AMT
1 1.000 0.120 3 49417868 frameshift variant GC/A delins 0.700 0
dbSNP: rs797045082
rs797045082
AMT
1 1.000 0.120 3 49418978 stop gained C/T snv 0.700 0
dbSNP: rs121964986
rs121964986
AMT
1 1.000 0.120 3 49419382 stop gained G/A snv 0.700 1.000 1 2000 2000
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