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: rs1194897557
rs1194897557
MTHFR
0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.020 0.500 2 1996 2000
dbSNP: rs1194897557
rs1194897557
MTHFR
0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		0.020 1.000 2 1999 2000
dbSNP: rs1194897557
rs1194897557
MTHFR
0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 < 0.001 1 1996 1996
dbSNP: rs1194897557
rs1194897557
MTHFR
0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.010 1.000 1 2014 2014
dbSNP: rs1194897557
rs1194897557
MTHFR
0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		0.010 1.000 1 2011 2011
dbSNP: rs1194897557
rs1194897557
MTHFR
0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis 		0.010 1.000 1 2002 2002
dbSNP: rs1194897557
rs1194897557
MTHFR
0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.010 1.000 1 2000 2000