Gene: AMN ×
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: rs386834176
rs386834176
AMN
1 1.000 0.240 14 102929477 missense variant G/T snv 0.800 1.000 6 2003 2018
dbSNP: rs1555381485
rs1555381485
AMN
1 1.000 0.240 14 102929537 splice donor variant G/A snv 0.700 1.000 2 2003 2012
dbSNP: rs969552874
rs969552874
AMN
1 1.000 0.240 14 102929923 splice acceptor variant G/C snv 1.4E-05 0.700 1.000 2 2003 2012
dbSNP: rs119478058
rs119478058
AMN
2 0.925 0.240 14 102923789 missense variant C/A;T snv 1.6E-05 0.700 0
dbSNP: rs144077391
rs144077391
AMN
1 1.000 0.240 14 102929087 non coding transcript exon variant G/A;C snv 1.4E-05; 1.5E-03 0.700 0
dbSNP: rs375774640
rs375774640
AMN
1 1.000 0.240 14 102923978 missense variant T/A;C snv 4.0E-06; 7.2E-05 0.700 0
dbSNP: rs386834160
rs386834160
AMN
1 1.000 0.240 14 102930096 non coding transcript exon variant CCATCCCGCCCCGCC/- delins 0.700 0
dbSNP: rs386834161
rs386834161
AMN
1 1.000 0.240 14 102930108 non coding transcript exon variant CCTCGCCCCGCCGCG/- delins 0.700 0
dbSNP: rs386834162
rs386834162
AMN
1 1.000 0.240 14 102930122 non coding transcript exon variant TCGCCCCGCCGCGGG/- del 0.700 0
dbSNP: rs386834163
rs386834163
AMN
1 1.000 0.240 14 102930172 frameshift variant CCTCGGCG/- del 0.700 0
dbSNP: rs386834164
rs386834164
AMN
1 1.000 0.240 14 102930400 splice region variant C/T snv 2.1E-03 2.9E-03 0.700 0
dbSNP: rs386834165
rs386834165
AMN
1 1.000 0.240 14 102930488 frameshift variant -/A delins 0.700 0
dbSNP: rs386834166
rs386834166
AMN
1 1.000 0.240 14 102930503 non coding transcript exon variant C/T snv 1.5E-05 7.0E-06 0.700 0
dbSNP: rs386834167
rs386834167
AMN
1 1.000 0.240 14 102930630 frameshift variant CA/- delins 1.4E-05 0.700 0
dbSNP: rs386834168
rs386834168
AMN
2 0.925 0.240 14 102922700 frameshift variant G/- delins 0.700 0
dbSNP: rs386834169
rs386834169
AMN
1 1.000 0.240 14 102928425 splice acceptor variant G/C snv 0.700 0
dbSNP: rs386834170
rs386834170
AMN
1 1.000 0.240 14 102928424 splice acceptor variant A/G snv 3.7E-05 0.700 0
dbSNP: rs386834171
rs386834171
AMN
1 1.000 0.240 14 102928512 splice donor variant G/- delins 0.700 0
dbSNP: rs386834172
rs386834172
AMN
1 1.000 0.240 14 102922732 splice donor variant G/T snv 0.700 0
dbSNP: rs386834173
rs386834173
AMN
1 1.000 0.240 14 102928929 frameshift variant -/T delins 0.700 0
dbSNP: rs386834174
rs386834174
AMN
1 1.000 0.240 14 102929439 stop gained G/A snv 0.700 0
dbSNP: rs386834175
rs386834175
AMN
1 1.000 0.240 14 102929455 inframe deletion AGCCCCTGGGCGGCCGCTGCCCCCAGGCCGCCTGCCACAGCGCCCTCC/- delins 7.0E-06 0.700 0
dbSNP: rs386834177
rs386834177
AMN
1 1.000 0.240 14 102929518 stop gained C/T snv 0.700 0
dbSNP: rs386834178
rs386834178
AMN
1 1.000 0.240 14 102929655 missense variant G/A;C snv 0.700 0
dbSNP: rs386834179
rs386834179
AMN
1 1.000 0.240 14 102930052 frameshift variant -/CCCG delins 0.700 0