HMBS, hydroxymethylbilane synthase, 3145

N. diseases: 140; N. variants: 66
Disease: Vomiting ×
Source: ALL
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: rs1057518886
rs1057518886 		11 119090043 frameshift variant C/- delins
CUI: C0042963
Disease: Vomiting
Vomiting 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1555206402
rs1555206402 		0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins
CUI: C0042963
Disease: Vomiting
Vomiting 		Pathological Conditions, Signs and Symptoms 0.700 0