rs1801131, MTHFR

N. diseases: 93
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
77 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2005 2005
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2005 2005
Bipolar Disorder
CUI: C0005586
Disease: Bipolar Disorder
839 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2008 2008
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
1082 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2010 2010
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
1022 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2010 2010
Orofacial cleft
CUI: C3266076
Disease: Orofacial cleft
2 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2010 2010
OROFACIAL CLEFT 1
CUI: C1861537
Disease: OROFACIAL CLEFT 1
11 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2010 2010
OTOFACIOCERVICAL SYNDROME 1
CUI: C3714941
Disease: OTOFACIOCERVICAL SYNDROME 1
10 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2010 2010
Primary central nervous system lymphoma
4 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2010 2010
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
1168 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2010 2010
Blood Pressure
CUI: C0005823
Disease: Blood Pressure
220 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.700 1.000 1 2011 2011
Carcinoma, Basal Cell
CUI: C4721806
Disease: Carcinoma, Basal Cell
91 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
Cerebral Palsy
CUI: C0007789
Disease: Cerebral Palsy
69 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
Cognitive changes
CUI: C1392786
Disease: Cognitive changes
15 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
Esophageal carcinoma
CUI: C0152018
Disease: Esophageal carcinoma
272 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
Esophageal Neoplasms
CUI: C0014859
Disease: Esophageal Neoplasms
270 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
Experimental Organism Basal Cell Carcinoma
63 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
Lip and Oral Cavity Carcinoma
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
172 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
Malignant neoplasm of colon and/or rectum
502 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
Malignant neoplasm of esophagus
CUI: C0546837
Disease: Malignant neoplasm of esophagus
214 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
Malignant neoplasm of mouth
CUI: C0153381
Disease: Malignant neoplasm of mouth
184 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
169 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.020 1.000 2 2010 2012