rs1057516033, KAT6B

N. diseases: 9
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Agenesis of corpus callosum
CUI: C0175754
Disease: Agenesis of corpus callosum
45 0.807 0.400 10 75025250 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Blepharophimosis
CUI: C0005744
Disease: Blepharophimosis
15 0.807 0.400 10 75025250 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Bulbous nose
CUI: C0240543
Disease: Bulbous nose
13 0.807 0.400 10 75025250 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
80 0.807 0.400 10 75025250 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.807 0.400 10 75025250 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.400 10 75025250 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.807 0.400 10 75025250 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.807 0.400 10 75025250 splice donor variant G/A snv 0.700 1.000 1 2016 2016
Young Simpson syndrome
CUI: C1863557
Disease: Young Simpson syndrome
13 0.807 0.400 10 75025250 splice donor variant G/A snv 0.700 1.000 1 2016 2016