Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1556009247
rs1556009247
HDAC8
0.882 X 72490973 missense variant A/C;T snv
CUI: C3550903
Disease: CORNELIA DE LANGE SYNDROME 5
CORNELIA DE LANGE SYNDROME 5 		0.700 1.000 1 2019 2019
dbSNP: rs1556009247
rs1556009247
HDAC8
0.882 X 72490973 missense variant A/C;T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs1556009247
rs1556009247
HDAC8
0.882 X 72490973 missense variant A/C;T snv
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		0.700 0
dbSNP: rs1556009247
rs1556009247
HDAC8
0.882 X 72490973 missense variant A/C;T snv
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 0
dbSNP: rs1556009247
rs1556009247
HDAC8
0.882 X 72490973 missense variant A/C;T snv
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.700 0
dbSNP: rs1556009247
rs1556009247
HDAC8
0.882 X 72490973 missense variant A/C;T snv
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		0.700 0
dbSNP: rs1556009247
rs1556009247
HDAC8
0.882 X 72490973 missense variant A/C;T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0