GNMT, glycine N-methyltransferase, 27232

N. diseases: 57; N. variants: 5
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: rs864321678
rs864321678 		1.000 0.080 6 42962849 missense variant A/G snv
CUI: C1847720
Disease: Hypermethioninemia due to deficiency of glycine N-methyltransferase
Hypermethioninemia due to deficiency of glycine N-methyltransferase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 2002 2003
dbSNP: rs121907888
rs121907888 		1.000 0.080 6 42960916 missense variant T/C snv 1.8E-05
CUI: C1847720
Disease: Hypermethioninemia due to deficiency of glycine N-methyltransferase
Hypermethioninemia due to deficiency of glycine N-methyltransferase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 0
dbSNP: rs121907889
rs121907889 		1.000 0.080 6 42963149 missense variant C/A snv 4.1E-04 3.9E-04
CUI: C1847720
Disease: Hypermethioninemia due to deficiency of glycine N-methyltransferase
Hypermethioninemia due to deficiency of glycine N-methyltransferase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 0
dbSNP: rs10948059
rs10948059 		0.925 0.080 6 42960723 upstream gene variant C/G;T snv 0.39
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs10948059
rs10948059 		0.925 0.080 6 42960723 upstream gene variant C/G;T snv 0.39
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2014 2016
dbSNP: rs10948059
rs10948059 		0.925 0.080 6 42960723 upstream gene variant C/G;T snv 0.39
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2014 2016
dbSNP: rs11752813
rs11752813 		6 42960279 upstream gene variant C/G snv 0.41
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2017 2017