rs1057516037, HDAC8

N. diseases: 4
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 0.925 X 72464626 protein altering variant TGGAG/AC delins 0.700 1.000 1 2016 2016
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 X 72464626 protein altering variant TGGAG/AC delins 0.700 1.000 1 2016 2016
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.925 X 72464626 protein altering variant TGGAG/AC delins 0.700 1.000 1 2016 2016
Short stature
CUI: C0349588
Disease: Short stature
292 0.925 X 72464626 protein altering variant TGGAG/AC delins 0.700 1.000 1 2016 2016