AHCY, adenosylhomocysteinase, 191

N. diseases: 107; N. variants: 37
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: rs121918607
rs121918607 		1.000 0.080 20 34292467 stop gained C/T snv
CUI: C3151058
Disease: S-adenosylhomocysteine hydrolase deficiency
S-adenosylhomocysteine hydrolase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs369428934
rs369428934 		0.925 0.240 20 34295469 missense variant G/A snv 2.8E-05 1.4E-05
CUI: C3151058
Disease: S-adenosylhomocysteine hydrolase deficiency
S-adenosylhomocysteine hydrolase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs6058017
rs6058017 		20 34269192 3 prime UTR variant A/G snv 0.15 0.29
CUI: C2673200
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 9 (disorder)
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 9 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121918608
rs121918608 		1.000 0.080 20 34292375 missense variant T/C snv 8.0E-05 9.1E-05
CUI: C3151058
Disease: S-adenosylhomocysteine hydrolase deficiency
S-adenosylhomocysteine hydrolase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 4 2004 2010
dbSNP: rs755222515
rs755222515 		1.000 0.080 20 34294110 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C3151058
Disease: S-adenosylhomocysteine hydrolase deficiency
S-adenosylhomocysteine hydrolase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 2004 2010
dbSNP: rs773162208
rs773162208 		0.925 0.240 20 34294119 missense variant T/C snv 4.0E-05 2.8E-05
CUI: C3151058
Disease: S-adenosylhomocysteine hydrolase deficiency
S-adenosylhomocysteine hydrolase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 2004 2010
dbSNP: rs1205349
rs1205349 		20 34311868 upstream gene variant G/C snv 0.72
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs1205349
rs1205349 		20 34311868 upstream gene variant G/C snv 0.72
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs1205350
rs1205350 		20 34310533 intron variant G/A snv 0.76
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs1205350
rs1205350 		20 34310533 intron variant G/A snv 0.76
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs1205357
rs1205357 		20 34289960 intron variant C/T snv 0.70
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs1205357
rs1205357 		20 34289960 intron variant C/T snv 0.70
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs2378132
rs2378132 		20 34258230 intron variant A/G;T snv
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs2378132
rs2378132 		20 34258230 intron variant A/G;T snv
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs369428934
rs369428934 		0.925 0.240 20 34295469 missense variant G/A snv 2.8E-05 1.4E-05
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs6088443
rs6088443 		20 34244325 intron variant C/T snv 0.29
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs6088443
rs6088443 		20 34244325 intron variant C/T snv 0.29
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs6088454
rs6088454 		20 34266771 intron variant A/T snv 0.13
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs6088454
rs6088454 		20 34266771 intron variant A/T snv 0.13
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs6120580
rs6120580 		20 34256724 intron variant C/T snv 0.25
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs6120580
rs6120580 		20 34256724 intron variant C/T snv 0.25
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs773162208
rs773162208 		0.925 0.240 20 34294119 missense variant T/C snv 4.0E-05 2.8E-05
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs819133
rs819133 		20 34282508 intron variant T/C;G snv
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs819133
rs819133 		20 34282508 intron variant T/C;G snv
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs819136
rs819136 		20 34260913 intron variant G/A snv 0.24
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010