GPD1, glycerol-3-phosphate dehydrogenase 1, 2819

N. diseases: 38; N. variants: 3
Disease: Multiple congenital anomalies ×
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: rs746781699
rs746781699 		1.000 12 50108042 frameshift variant AA/- delins 2.4E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 2012 2017