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: rs121918608
rs121918608
1.000 0.080 20 34292375 missense variant T/C snv 8.0E-05 9.1E-05
S-adenosylhomocysteine hydrolase deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 4 2004 2010
dbSNP: rs121918608
rs121918608
1.000 0.080 20 34292375 missense variant T/C snv 8.0E-05 9.1E-05
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 5 2006 2016
dbSNP: rs755222515
rs755222515
1.000 0.080 20 34294110 missense variant G/A snv 1.6E-05 2.1E-05
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
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: rs121918608
rs121918608
1.000 0.080 20 34292375 missense variant T/C snv 8.0E-05 9.1E-05
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis
Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs150653367
rs150653367
20 34289364 intron variant G/A snv 2.0E-02
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
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: 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: 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
dbSNP: rs819136
rs819136
20 34260913 intron variant G/A snv 0.24
CUI: C0919677
Disease: Protein C measurement
Protein C measurement
0.700 1.000 1 2010 2010
dbSNP: rs819142
rs819142
20 34273201 intron variant G/A;C;T snv
CUI: C0919677
Disease: Protein C measurement
Protein C measurement
0.700 1.000 1 2010 2010