SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1135401891 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401892 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401893 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401894 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401896 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1135401897 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast and/or ovarian cancer
RS1135401898 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1135401899 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401900 BRCA2 Health Risk Pathogenic BRCA2-related disorder, Breast-ovarian cancer
RS1135401901 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401902 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401903 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1135401904 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401905 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401906 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401907 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401908 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1135401910 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401912 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401914 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1135401915 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401916 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401917 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1135401918 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1135401919 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1135401921 BRCA2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401922 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401923 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401924 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401925 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401927 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1135401928 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Malignant tumor of breast
RS1135401929 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401932 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401933 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401935 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401936 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401937 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1135401938 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1135401944 KCNQ1 Health Risk Pathogenic Long QT syndrome 1, Long QT syndrome 1
RS1135401950 KCNA1 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 1, Episodic ataxia type 1
RS1135401953 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta
RS1135401954 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS1135401955 KCNQ5 Health Risk Pathogenic Intellectual disability, autosomal dominant 46
RS1135401956 KCNQ5 Health Risk Pathogenic Intellectual disability, autosomal dominant 46
RS1135401957 KCNQ5 Health Risk Pathogenic Intellectual disability, autosomal dominant 46
RS1135401958 KCNQ5 Health Risk Pathogenic Intellectual disability, autosomal dominant 46
RS1135401959 DONSON Health Risk Pathogenic Microcephaly, short stature
RS1135401960 DONSON Health Risk Conflicting classifications of pathogenicity Microcephaly, short stature
RS1135401961 DONSON Health Risk Pathogenic Microcephaly, short stature
RS1135402725 PDHX Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency
RS1135402732 EPG5 Health Risk Likely pathogenic Vici syndrome, Vici syndrome
RS1135402736 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, Vici syndrome
RS1135402737 SMCHD1 Health Risk Pathogenic Arrhinia with choanal atresia and microphthalmia syndrome, Arrhinia with choanal atresia and microphthalmia syndrome
RS1135402738 SMCHD1 Health Risk Pathogenic Arrhinia with choanal atresia and microphthalmia syndrome, Arrhinia with choanal atresia and microphthalmia syndrome
RS1135402739 SMCHD1 Health Risk Pathogenic Arrhinia with choanal atresia and microphthalmia syndrome, Arrhinia with choanal atresia and microphthalmia syndrome
RS1135402741 SMCHD1 Health Risk Pathogenic Arrhinia with choanal atresia and microphthalmia syndrome, Arrhinia with choanal atresia and microphthalmia syndrome
RS1135402742 SMCHD1 Health Risk Pathogenic Arrhinia with choanal atresia and microphthalmia syndrome, Arrhinia with choanal atresia and microphthalmia syndrome
RS1135402743 SMCHD1 Health Risk Pathogenic Arrhinia with choanal atresia and microphthalmia syndrome, Arrhinia with choanal atresia and microphthalmia syndrome
RS1135402744 SMCHD1 Health Risk Pathogenic Arrhinia with choanal atresia and microphthalmia syndrome, Arrhinia with choanal atresia and microphthalmia syndrome
RS1135402745 SMCHD1 Health Risk Pathogenic Arrhinia with choanal atresia and microphthalmia syndrome, Arrhinia with choanal atresia and microphthalmia syndrome
RS1135402746 P4HA2 Health Risk Pathogenic Myopia 25, autosomal dominant
RS1135402748 PLS3 Health Risk Pathogenic Bone mineral density quantitative trait locus 18, Bone mineral density quantitative trait locus 18
RS1135402749 NDUFV1 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 4
RS1135402750 BAG3 Health Risk Likely pathogenic Dilated cardiomyopathy 1HH, Dilated cardiomyopathy 1HH
RS1135402752 MAMLD1 Health Risk Pathogenic Hypospadias 2, X-linked
RS1135402754 DZIP1L Health Risk Pathogenic Polycystic kidney disease 5, Polycystic kidney disease 5
RS1135402755 DZIP1L Health Risk Pathogenic Polycystic kidney disease 5, Polycystic kidney disease 5
RS1135402756 DZIP1L Health Risk Pathogenic Polycystic kidney disease 5, Polycystic kidney disease 5
RS1135402758 NUP214 Health Risk Likely pathogenic Congenital anomaly of face, Growth delay
RS1135402759 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1135402760 BRSK2 Health Risk Likely pathogenic —
RS1135402761 SYT1 Health Risk Pathogenic/Likely pathogenic SYT1-associated neurodevelopmental disorder, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
RS1135402762 APOB Health Risk Pathogenic Hypercholesterolemia, familial
RS1135402764 APOB Health Risk Pathogenic Hypercholesterolemia, familial
RS1135402765 APOB Health Risk Pathogenic Hypercholesterolemia, familial
RS1135402766 APOB Health Risk Pathogenic Hypercholesterolemia, familial
RS1135402767 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1135402768 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1135402769 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1135402773 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1135402774 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1135402776 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1135402777 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1135402778 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1135402779 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1135402780 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS1135402783 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1135402784 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1135402785 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1135402787 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1135402788 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1135402789 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1135402790 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1135402791 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1135402792 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1135402793 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1135402794 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1135402795 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1135402796 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
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