PSAT1, phosphoserine aminotransferase 1, 29968

N. diseases: 285; N. variants: 9
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: rs587777777
rs587777777 		1.000 9 78306452 stop gained C/A;T snv
CUI: C4015019
Disease: NEU-LAXOVA SYNDROME 2
NEU-LAXOVA SYNDROME 2 		0.800 1.000 1 2014 2014
dbSNP: rs587777778
rs587777778 		1.000 9 78304839 missense variant C/T snv 1.6E-04 1.8E-04
CUI: C4015019
Disease: NEU-LAXOVA SYNDROME 2
NEU-LAXOVA SYNDROME 2 		0.800 1.000 1 2014 2014
dbSNP: rs118203967
rs118203967 		1.000 0.200 9 78304842 missense variant A/C snv 1.4E-05
CUI: C1970253
Disease: Phosphoserine Aminotransferase Deficiency
Phosphoserine Aminotransferase Deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.800 0
dbSNP: rs1564012541
rs1564012541 		1.000 9 78302010 frameshift variant G/- del
CUI: C4015019
Disease: NEU-LAXOVA SYNDROME 2
NEU-LAXOVA SYNDROME 2 		0.700 0
dbSNP: rs587777747
rs587777747 		1.000 0.200 9 78300647 frameshift variant G/- delins
CUI: C1970253
Disease: Phosphoserine Aminotransferase Deficiency
Phosphoserine Aminotransferase Deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs587777776
rs587777776 		1.000 9 78328996 frameshift variant CCGGG/AGACCT delins
CUI: C4015019
Disease: NEU-LAXOVA SYNDROME 2
NEU-LAXOVA SYNDROME 2 		0.700 0
dbSNP: rs1293441395
rs1293441395 		0.925 0.080 9 78306457 missense variant T/A snv 4.0E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1293441395
rs1293441395 		0.925 0.080 9 78306457 missense variant T/A snv 4.0E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2001 2001
dbSNP: rs202103028
rs202103028 		0.925 0.080 9 78328997 missense variant C/T snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs202103028
rs202103028 		0.925 0.080 9 78328997 missense variant C/T snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs370535310
rs370535310 		0.925 0.080 9 78304854 missense variant C/T snv 2.1E-05
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs370535310
rs370535310 		0.925 0.080 9 78304854 missense variant C/T snv 2.1E-05
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs370535310
rs370535310 		0.925 0.080 9 78304854 missense variant C/T snv 2.1E-05
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 < 0.001 1 2013 2013