POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
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: rs121918111
rs121918111
1.000 0.120 2 25161572 stop gained C/A;G;T snv 6.2E-06
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121918112
rs121918112
1.000 0.120 2 25161734 stop gained T/A snv 7.0E-06
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1553400259
rs1553400259
1.000 0.120 2 25161754 splice acceptor variant T/G snv
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs753856820
rs753856820
1.000 0.120 2 25164783 5 prime UTR variant G/T snv 2.8E-05 1.4E-05
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs796065034
rs796065034
1.000 0.120 2 25161452 frameshift variant G/- delins
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs796065035
rs796065035
1.000 0.120 2 25161480 frameshift variant -/CC delins
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0