Source: ALL

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: 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: 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: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 1.000 1 2017 2017
dbSNP: rs1557761665
rs1557761665
MTHFR
1.000 1 11794437 frameshift variant -/C delins
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.700 0
dbSNP: rs576853093
rs576853093
MTHFR
1 11790946 intron variant -/C;CACACACACACAC ins 6.2E-03
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.700 1.000 1 2011 2011
dbSNP: rs786204010
rs786204010
MTHFR
1.000 1 11801333 inframe insertion -/TCACCTGCTGGGTGCCAGGTCACGTCTATGTAGAGGGGG delins
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.700 0
dbSNP: rs267606886
rs267606886
MTHFR
0.925 1 11795114 missense variant A/C snv
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.700 1.000 7 1995 2015
dbSNP: rs786204019
rs786204019
MTHFR
1.000 1 11796217 missense variant A/C snv
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.800 1.000 7 1995 2015
dbSNP: rs786204026
rs786204026
MTHFR
1.000 1 11793921 missense variant A/C snv
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.800 1.000 7 1995 2015
dbSNP: rs267606886
rs267606886
MTHFR
0.925 1 11795114 missense variant A/C snv
CUI: C4017062
Disease: HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY
HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY 		0.700 0
dbSNP: rs786204031
rs786204031
MTHFR
1.000 1 11791235 missense variant A/C;G snv 4.0E-06
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.800 1.000 7 1995 2015
dbSNP: rs749765738
rs749765738
MTHFR
1.000 1 11792276 splice donor variant A/C;G snv 4.0E-06
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.700 1.000 1 2015 2015
dbSNP: rs761230732
rs761230732
MTHFR
1.000 0.040 1 11801211 missense variant A/C;G snv 4.0E-06
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome 		0.010 1.000 1 2013 2013
dbSNP: rs786204027
rs786204027
MTHFR
1.000 1 11793905 splice donor variant A/C;G snv 4.1E-06
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.700 0
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		0.100 0.936 156 1996 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.100 0.914 70 1997 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 0.829 70 1999 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.100 0.882 68 1997 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.100 0.922 64 1997 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 0.903 62 2002 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 0.902 61 2002 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		0.100 0.932 59 1996 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.100 0.914 58 1998 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.100 0.839 56 1999 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.100 0.942 52 1996 2019