Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.010 1.000 1 2007 2007
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		0.020 1.000 2 2012 2020
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.020 1.000 2 2012 2020
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency 		0.010 1.000 1 2018 2018
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0282666
Disease: Very Low Birth Weight
Very Low Birth Weight 		0.010 1.000 1 2004 2004
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.010 < 0.001 1 2013 2013
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.020 1.000 2 2003 2013
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C3647902
Disease: Vasculogenic erectile dysfunction
Vasculogenic erectile dysfunction 		0.010 1.000 1 2010 2010
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		0.040 1.000 4 1999 2007
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0042345
Disease: Varicosity
Varicosity 		0.010 1.000 1 2015 2015
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0042341
Disease: Varicocele
Varicocele 		0.010 1.000 1 2015 2015
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.010 < 0.001 1 2012 2012
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.020 1.000 2 2012 2017
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		0.040 0.500 4 2008 2015
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.010 1.000 1 2011 2011
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		0.010 1.000 1 2012 2012
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0917805
Disease: Transient Cerebral Ischemia
Transient Cerebral Ischemia 		0.010 1.000 1 2012 2012
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins 		0.010 1.000 1 2013 2013
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.050 1.000 5 2009 2019
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.010 1.000 1 2009 2009
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		0.010 1.000 1 2014 2014
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C1861305
Disease: TARSAL-CARPAL COALITION SYNDROME
TARSAL-CARPAL COALITION SYNDROME 		0.010 1.000 1 2011 2011
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.100 0.833 12 2005 2014
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.020 1.000 2 2013 2014
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.020 1.000 2 2007 2012