Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587784384
rs587784384
0.925 0.120 X 74525834 missense variant C/T snv
Allan-Herndon-Dudley syndrome (AHDS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 11 2004 2017
dbSNP: rs104894931
rs104894931
1.000 0.120 X 74529355 missense variant T/C snv
Allan-Herndon-Dudley syndrome (AHDS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 9 2004 2017
dbSNP: rs104894936
rs104894936
1.000 0.120 X 74521008 missense variant C/A;T snv
Allan-Herndon-Dudley syndrome (AHDS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 9 2004 2017
dbSNP: rs104894938
rs104894938
1.000 0.120 X 74531414 missense variant T/C;G snv
Allan-Herndon-Dudley syndrome (AHDS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 9 2004 2017
dbSNP: rs104894939
rs104894939
1.000 0.120 X 74525802 missense variant T/G snv
Allan-Herndon-Dudley syndrome (AHDS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 9 2004 2017
dbSNP: rs122455132
rs122455132
0.925 0.200 X 74529232 missense variant T/C snv
Allan-Herndon-Dudley syndrome (AHDS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 9 2004 2017
dbSNP: rs373279555
rs373279555
1.000 0.120 X 74521007 missense variant G/A snv 5.5E-06
Allan-Herndon-Dudley syndrome (AHDS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 9 2004 2017
dbSNP: rs398124232
rs398124232
1.000 0.120 X 74524430 missense variant C/T snv
Allan-Herndon-Dudley syndrome (AHDS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 9 2004 2017
dbSNP: rs794727799
rs794727799
1.000 0.120 X 74531401 missense variant G/A snv
Allan-Herndon-Dudley syndrome (AHDS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 9 2004 2017
dbSNP: rs104894940
rs104894940
1.000 0.120 X 74525844 stop gained C/A snv
Allan-Herndon-Dudley syndrome (AHDS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs113994162
rs113994162
1.000 0.120 X 74421996 missense variant C/T snv
Allan-Herndon-Dudley syndrome (AHDS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs113994164
rs113994164
1.000 0.120 X 74529317 inframe deletion TTC/- delins
Allan-Herndon-Dudley syndrome (AHDS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs113994166
rs113994166
1.000 0.120 X 74531545 frameshift variant C/- delins
Allan-Herndon-Dudley syndrome (AHDS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1363308293
rs1363308293
1.000 0.120 X 74529432 missense variant C/T snv
Allan-Herndon-Dudley syndrome (AHDS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555989364
rs1555989364
1.000 0.120 X 74520993 stop gained G/A snv
Allan-Herndon-Dudley syndrome (AHDS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555989375
rs1555989375
1.000 0.120 X 74521087 frameshift variant G/- delins
Allan-Herndon-Dudley syndrome (AHDS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555989729
rs1555989729
1.000 0.120 X 74524810 splice donor variant G/T snv
Allan-Herndon-Dudley syndrome (AHDS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555989846
rs1555989846
1.000 0.120 X 74525894 splice region variant AGTG/- delins
Allan-Herndon-Dudley syndrome (AHDS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs367543059
rs367543059
1.000 0.120 X 74529295 missense variant T/C snv
Allan-Herndon-Dudley syndrome (AHDS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs387906501
rs387906501
1.000 0.120 X 74521020 inframe deletion TCT/- delins
Allan-Herndon-Dudley syndrome (AHDS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784382
rs587784382
1.000 0.120 X 74524699 stop gained C/T snv
Allan-Herndon-Dudley syndrome (AHDS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784383
rs587784383
1.000 0.120 X 74524762 missense variant G/A snv
Allan-Herndon-Dudley syndrome (AHDS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784386
rs587784386
1.000 0.120 X 74421914 stop gained C/T snv
Allan-Herndon-Dudley syndrome (AHDS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs727504155
rs727504155
1.000 0.120 X 74524373 missense variant G/A snv
Allan-Herndon-Dudley syndrome (AHDS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs766773277
rs766773277
1.000 0.120 X 74524723 stop gained C/A;T snv 1.6E-05
Allan-Herndon-Dudley syndrome (AHDS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0