rs1217691063, MTHFR

N. diseases: 614
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.
Xeroderma Pigmentosum
CUI: C0043346
Disease: Xeroderma Pigmentosum
35 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
Wheezing
CUI: C0043144
Disease: Wheezing
54 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1 2012 2012
von Willebrand Disease
CUI: C0042974
Disease: von Willebrand Disease
78 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
92 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2012 2020
Vitiligo
CUI: C0042900
Disease: Vitiligo
249 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2012 2020
Vitamin B 12 Deficiency
CUI: C0042847
Disease: Vitamin B 12 Deficiency
11 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.080 1.000 8 1997 2018
Virus Diseases
CUI: C0042769
Disease: Virus Diseases
42 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 2013 2019
Vertical Talus
CUI: C0240912
Disease: Vertical Talus
20 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2002 2012
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
87 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2017 2019
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
408 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.903 31 1997 2015
Venous retinal branch occlusion
CUI: C0339505
Disease: Venous retinal branch occlusion
7 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2002 2010
Vaso-Occlusive Crisis
CUI: C0750151
Disease: Vaso-Occlusive Crisis
5 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
Vascular occlusion
CUI: C1096458
Disease: Vascular occlusion
2 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 1999 1999
Vascular lesions
CUI: C1402315
Disease: Vascular lesions
9 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
Vascular Diseases
CUI: C0042373
Disease: Vascular Diseases
40 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 1.000 24 1999 2018
Varicosity
CUI: C0042345
Disease: Varicosity
51 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2011 2016
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
75 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 2012 2013
Unipolar Depression
CUI: C0041696
Disease: Unipolar Depression
225 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1 2012 2012
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
827 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 1999 2016
Turner Syndrome
CUI: C0041408
Disease: Turner Syndrome
21 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 0.667 3 2008 2015
Tumour budding
CUI: C4049272
Disease: Tumour budding
8 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
Tumor Promotion
CUI: C1519689
Disease: Tumor Promotion
2 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
Trichohepatoenteric Syndrome
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
28 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
Transitional cell carcinoma of bladder
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
158 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
Transient Ischemic Attack
CUI: C0007787
Disease: Transient Ischemic Attack
16 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 1999 1999