Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs72547528
rs72547528
0.925 0.120 16 31091334 missense variant G/A;C snv 7.2E-05; 8.1E-06
CUI: C0042880
Disease: Vitamin K Deficiency
Vitamin K Deficiency
Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs72547528
rs72547528
0.925 0.120 16 31091334 missense variant G/A;C snv 7.2E-05; 8.1E-06
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 0
dbSNP: rs104894542
rs104894542
16 31091243 missense variant A/C snv
CUI: C0750384
Disease: Coumarin Resistance
Coumarin Resistance
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2004 2011
dbSNP: rs7294
rs7294
1.000 0.040 16 31091000 3 prime UTR variant C/T snv 0.41
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
Cardiovascular Diseases 0.010 1.000 1 2017 2017