rs1556009247, HDAC8

N. diseases: 7
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.
CORNELIA DE LANGE SYNDROME 5
CUI: C3550903
Disease: CORNELIA DE LANGE SYNDROME 5
26 0.882 X 72490973 missense variant A/C;T snv 0.700 1.000 1 2019 2019
4-5 finger syndactyly
CUI: C4023731
Disease: 4-5 finger syndactyly
2 0.882 X 72490973 missense variant A/C;T snv 0.700 0
Abnormality of the face
CUI: C4025871
Disease: Abnormality of the face
24 0.882 X 72490973 missense variant A/C;T snv 0.700 0
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 0.882 X 72490973 missense variant A/C;T snv 0.700 0
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.882 X 72490973 missense variant A/C;T snv 0.700 0
Polycystic Kidney Diseases
CUI: C0022680
Disease: Polycystic Kidney Diseases
54 0.882 X 72490973 missense variant A/C;T snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.882 X 72490973 missense variant A/C;T snv 0.700 0