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: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder 		0.010 < 0.001 1 2020 2020
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C4021813
Disease: Oral cleft
Oral cleft 		0.010 1.000 1 2020 2020
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0752121
Disease: Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 2 		0.010 1.000 1 2020 2020
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder 		0.010 1.000 1 2020 2020
dbSNP: rs4846048
rs4846048
MTHFR ; C1orf167
0.752 0.280 1 11786195 3 prime UTR variant G/A snv 0.67
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 1.000 1 2020 2020
dbSNP: rs4846048
rs4846048
MTHFR ; C1orf167
0.752 0.280 1 11786195 3 prime UTR variant G/A snv 0.67
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.010 1.000 1 2020 2020
dbSNP: rs4846048
rs4846048
MTHFR ; C1orf167
0.752 0.280 1 11786195 3 prime UTR variant G/A snv 0.67
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 1.000 1 2020 2020
dbSNP: rs55763075
rs55763075
MTHFR ; C1orf167
0.827 0.120 1 11790377 3 prime UTR variant C/T snv 2.1E-05
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 1.000 1 2020 2020
dbSNP: rs55763075
rs55763075
MTHFR ; C1orf167
0.827 0.120 1 11790377 3 prime UTR variant C/T snv 2.1E-05
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 1.000 1 2020 2020
dbSNP: rs55763075
rs55763075
MTHFR ; C1orf167
0.827 0.120 1 11790377 3 prime UTR variant C/T snv 2.1E-05
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.010 1.000 1 2020 2020
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection 		0.010 < 0.001 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0940937
Disease: precancerous lesions
precancerous lesions 		0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0271680
Disease: Diabetic Polyneuropathies
Diabetic Polyneuropathies 		0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0746731
Disease: Acute myocardial ischemia
Acute myocardial ischemia 		0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C4302205
Disease: Neonatal thrombosis of cerebral venous sinus
Neonatal thrombosis of cerebral venous sinus 		0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0750151
Disease: Vaso-Occlusive Crisis
Vaso-Occlusive Crisis 		0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0036346
Disease: Schizophrenia, Childhood
Schizophrenia, Childhood 		0.010 < 0.001 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0340293
Disease: Anterior myocardial infarction
Anterior myocardial infarction 		0.010 1.000 1 2019 2019
dbSNP: rs1801131
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26
CUI: C0085083
Disease: Ovarian Hyperstimulation Syndrome
Ovarian Hyperstimulation Syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs1801131
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.010 1.000 1 2019 2019
dbSNP: rs1801131
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 < 0.001 1 2019 2019
dbSNP: rs1801131
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 < 0.001 1 2019 2019
dbSNP: rs1801131
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.010 1.000 1 2019 2019
dbSNP: rs1801131
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.010 1.000 1 2019 2019