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: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		0.010 1.000 1 2008 2008
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.030 0.667 3 2006 2011
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.010 < 0.001 1 2011 2011
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C2585317
Disease: Acquired thrombophilia
Acquired thrombophilia 		0.020 1.000 2 2002 2005
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis 		0.010 1.000 1 2015 2015
dbSNP: rs1801131
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis 		0.010 1.000 1 2015 2015
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis 		0.010 1.000 1 2015 2015
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis 		0.010 1.000 1 2015 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.010 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		0.060 1.000 6 2000 2016
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		0.010 1.000 1 1997 1997
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		0.010 1.000 1 2010 2010
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		0.010 1.000 1 2017 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		0.020 1.000 2 2013 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0856825
Disease: Acute GVH disease
Acute GVH disease 		0.010 1.000 1 2009 2009
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.040 1.000 4 2002 2018
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.020 1.000 2 2007 2012
dbSNP: rs1801131
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2012 2012
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2012 2012
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.100 0.935 46 2001 2019
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.100 0.943 35 2001 2019
dbSNP: rs1801131
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.030 1.000 3 2013 2017
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.020 1.000 2 2015 2017
dbSNP: rs200890679
rs200890679
MTHFR
0.790 0.240 1 11795191 missense variant C/A;G snv 1.8E-04 2.0E-04
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 1.000 1 2008 2008
dbSNP: rs35134728
rs35134728
MTHFR ; C1orf167
0.882 0.120 1 11787277 3 prime UTR variant -/AGA delins
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 1.000 1 2017 2017