GPD1, glycerol-3-phosphate dehydrogenase 1, 2819

N. diseases: 38; N. variants: 3
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: rs199673455
rs199673455
1.000 12 50107640 missense variant G/A;C snv 7.2E-05; 1.2E-05
HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE
0.800 0
dbSNP: rs746781699
rs746781699
1.000 12 50108042 frameshift variant AA/- delins 2.4E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 3 2012 2017
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
dbSNP: rs200327418
rs200327418
1.000 12 50106287 splice acceptor variant G/C snv
HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE
0.700 0