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: rs4846048
rs4846048
MTHFR ; C1orf167
0.752 0.280 1 11786195 3 prime UTR variant G/A snv 0.67
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs4846048
rs4846048
MTHFR ; C1orf167
0.752 0.280 1 11786195 3 prime UTR variant G/A snv 0.67
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		0.010 1.000 1 2019 2019
dbSNP: rs4846048
rs4846048
MTHFR ; C1orf167
0.752 0.280 1 11786195 3 prime UTR variant G/A snv 0.67
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		0.010 1.000 1 2019 2019
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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2015 2015
dbSNP: rs4846048
rs4846048
MTHFR ; C1orf167
0.752 0.280 1 11786195 3 prime UTR variant G/A snv 0.67
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 1.000 1 2017 2017
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: rs4846048
rs4846048
MTHFR ; C1orf167
0.752 0.280 1 11786195 3 prime UTR variant G/A snv 0.67
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2014 2014
dbSNP: rs4846048
rs4846048
MTHFR ; C1orf167
0.752 0.280 1 11786195 3 prime UTR variant G/A snv 0.67
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs142884651
rs142884651
MTHFR ; C1orf167
1.000 0.080 1 11786327 3 prime UTR variant G/A snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 1.000 1 2018 2018
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
dbSNP: rs35134728
rs35134728
MTHFR ; C1orf167
0.882 0.120 1 11787277 3 prime UTR variant -/AGA delins
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2017 2017
dbSNP: rs35134728
rs35134728
MTHFR ; C1orf167
0.882 0.120 1 11787277 3 prime UTR variant -/AGA delins
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 1.000 1 2017 2017
dbSNP: rs3737966
rs3737966
MTHFR ; C1orf167
0.882 0.120 1 11787702 3 prime UTR variant C/T snv 0.55
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2017 2017
dbSNP: rs3737966
rs3737966
MTHFR ; C1orf167
0.882 0.120 1 11787702 3 prime UTR variant C/T snv 0.55
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 1.000 1 2017 2017
dbSNP: rs3737966
rs3737966
MTHFR ; C1orf167
0.882 0.120 1 11787702 3 prime UTR variant C/T snv 0.55
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 1.000 1 2017 2017
dbSNP: rs114673809
rs114673809
MTHFR ; C1orf167
0.882 0.080 1 11787703 3 prime UTR variant G/A snv 5.0E-03
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2016 2016
dbSNP: rs114673809
rs114673809
MTHFR ; C1orf167
0.882 0.080 1 11787703 3 prime UTR variant G/A snv 5.0E-03
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2015 2015
dbSNP: rs114673809
rs114673809
MTHFR ; C1orf167
0.882 0.080 1 11787703 3 prime UTR variant G/A snv 5.0E-03
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1537514
rs1537514
MTHFR ; C1orf167
0.882 0.120 1 11788011 missense variant G/C snv 0.10 0.10
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs1537514
rs1537514
MTHFR ; C1orf167
0.882 0.120 1 11788011 missense variant G/C snv 0.10 0.10
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2014 2014
dbSNP: rs1537514
rs1537514
MTHFR ; C1orf167
0.882 0.120 1 11788011 missense variant G/C snv 0.10 0.10
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.010 1.000 1 2014 2014
dbSNP: rs1537514
rs1537514
MTHFR ; C1orf167
0.882 0.120 1 11788011 missense variant G/C snv 0.10 0.10
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs868014
rs868014
MTHFR ; C1orf167
1.000 0.080 1 11789390 missense variant A/G snv 0.99 0.94
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 1.000 1 2017 2017