rs397507444, MTHFR

N. diseases: 306
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 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2007 2007
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
92 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2012 2020
Vitiligo
CUI: C0042900
Disease: Vitiligo
249 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2012 2020
Vitamin B 12 Deficiency
CUI: C0042847
Disease: Vitamin B 12 Deficiency
11 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2018 2018
Very Low Birth Weight
CUI: C0282666
Disease: Very Low Birth Weight
2 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2004 2004
Vertical Talus
CUI: C0240912
Disease: Vertical Talus
20 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2013 2013
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
408 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2003 2013
Vasculogenic erectile dysfunction
CUI: C3647902
Disease: Vasculogenic erectile dysfunction
3 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2010 2010
Vascular Diseases
CUI: C0042373
Disease: Vascular Diseases
40 0.405 0.880 1 11794407 missense variant T/G snv 0.040 1.000 4 1999 2007
Varicosity
CUI: C0042345
Disease: Varicosity
51 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2015 2015
Varicocele
CUI: C0042341
Disease: Varicocele
3 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2015 2015
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
75 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1 2012 2012
Unipolar Depression
CUI: C0041696
Disease: Unipolar Depression
225 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2012 2017
Turner Syndrome
CUI: C0041408
Disease: Turner Syndrome
21 0.405 0.880 1 11794407 missense variant T/G snv 0.040 0.500 4 2008 2015
Transitional cell carcinoma of bladder
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
158 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2011 2011
Transient Ischemic Attack
CUI: C0007787
Disease: Transient Ischemic Attack
16 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2012 2012
Transient Cerebral Ischemia
CUI: C0917805
Disease: Transient Cerebral Ischemia
9 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2012 2012
Thrombosis of cerebral veins
CUI: C0151945
Disease: Thrombosis of cerebral veins
11 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2013 2013
Thrombophilia
CUI: C0398623
Disease: Thrombophilia
43 0.405 0.880 1 11794407 missense variant T/G snv 0.050 1.000 5 2009 2019
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2009 2009
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
37 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2014 2014
TARSAL-CARPAL COALITION SYNDROME
CUI: C1861305
Disease: TARSAL-CARPAL COALITION SYNDROME
13 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2011 2011
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
652 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.833 12 2005 2014
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
75 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2013 2014
Squamous cell carcinoma of the head and neck
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
348 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2007 2012