H3-3A, H3.3 histone A, 3020

N. diseases: 68; N. variants: 3
Disease: Periventricular gray matter heterotopia ×
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: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C1849173
Disease: Periventricular gray matter heterotopia
Periventricular gray matter heterotopia 		0.700 0