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: rs104894320
rs104894320
AICDA
1 1.000 0.120 12 8605404 missense variant A/G snv 0.800 1.000 5 2000 2016
dbSNP: rs104894321
rs104894321
AICDA
1 1.000 0.120 12 8605325 missense variant A/G snv 0.800 1.000 5 2000 2016
dbSNP: rs104894322
rs104894322
AICDA
1 1.000 0.120 12 8605227 missense variant T/C snv 0.800 1.000 5 2000 2016
dbSNP: rs104894324
rs104894324
AICDA
3 0.882 0.120 12 8606951 missense variant G/A snv 4.0E-06 0.800 1.000 5 2000 2016
dbSNP: rs104894327
rs104894327
AICDA
1 1.000 0.120 12 8604898 missense variant A/G snv 0.800 1.000 5 2000 2016
dbSNP: rs762590894
rs762590894
AICDA
1 1.000 0.120 12 8605383 missense variant A/G snv 8.0E-06 7.0E-06 0.700 1.000 5 2000 2016
dbSNP: rs104894323
rs104894323
AICDA
1 1.000 0.120 12 8604909 stop gained G/T snv 4.2E-06 7.7E-06 0.700 0
dbSNP: rs104894325
rs104894325
AICDA
1 1.000 0.120 12 8605439 stop gained C/T snv 0.700 0
dbSNP: rs1057520542
rs1057520542
AICDA
1 1.000 0.120 12 8605308 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs193922703
rs193922703
AICDA
1 1.000 0.120 12 8605391 stop gained C/T snv 0.700 0
dbSNP: rs193922704
rs193922704
AICDA
1 1.000 0.120 12 8605268 missense variant C/T snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs387906328
rs387906328
AICDA
1 1.000 0.120 12 8606981 frameshift variant GTAAAGAAACTTCCTCCGG/- delins 0.700 0
dbSNP: rs387906329
rs387906329
AICDA
1 1.000 0.120 12 8605457 inframe deletion GGAAGAGCA/- delins 0.700 0
dbSNP: rs200858797
rs200858797
AICDA
1 1.000 0.120 12 8605226 missense variant A/G snv 1.6E-04 1.9E-04 0.010 1.000 1 2016 2016