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: rs1057519450
rs1057519450
HEATR4 ; ACOT1
14 73537826 frameshift variant AGCCGGTGCGCGCG/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0