HDAC8, histone deacetylase 8, 55869

N. diseases: 35; N. variants: 28
Disease: Short stature ×
Source: CLINVAR ×
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: rs1057516037
rs1057516037 		0.925 X 72464626 protein altering variant TGGAG/AC delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 1 2016 2016
dbSNP: rs1556165162
rs1556165162 		0.882 0.120 X 72572657 frameshift variant GG/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0