SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS387906823 OSMR Health Risk Pathogenic Amyloidosis, primary localized cutaneous
RS387906824 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS387906826 ORC1 Health Risk Pathogenic Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1
RS387906827 ORC1 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 1, ORC1-related disorder
RS387906828 ORC1 Health Risk Likely pathogenic Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1
RS387906829 SIGMAR1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 16, Inborn genetic diseases
RS387906830 VRK1 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1A, Neuronopathy
RS387906831 DDOST Health Risk Pathogenic Congenital disorder of glycosylation type Ir, Congenital disorder of glycosylation type Ir
RS387906832 RAB18 Health Risk Pathogenic Warburg micro syndrome 3, Warburg micro syndrome 3
RS387906833 RAB18 Health Risk Pathogenic Warburg micro syndrome 3, Warburg micro syndrome 3
RS387906834 KCNJ10 Health Risk Likely pathogenic EAST syndrome, EAST syndrome
RS387906835 TULP1 Health Risk Likely pathogenic Leber congenital amaurosis 15, Leber congenital amaurosis 15
RS387906836 TULP1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 15, Polydactyly
RS387906837 TULP1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 15, Leber congenital amaurosis
RS387906838 AP4M1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 50, Spastic paraplegia
RS387906839 FADD Health Risk Likely pathogenic FADD-related immunodeficiency, FADD-related immunodeficiency
RS387906840 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Tubulinopathy
RS387906841 CDSN Health Risk Pathogenic Peeling skin syndrome 1, Peeling skin syndrome 1
RS387906843 RAD51D Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS387906844 NOG Health Risk Pathogenic Symphalangism-brachydactyly syndrome, Symphalangism-brachydactyly syndrome
RS387906845 ARID1A Health Risk Pathogenic Intellectual disability, autosomal dominant 14
RS387906846 ARID1A Health Risk Pathogenic Intellectual disability, autosomal dominant 14
RS387906847 ORC4 Health Risk Pathogenic/Likely pathogenic Meier-Gorlin syndrome 2, Meier-Gorlin syndrome 2
RS387906848 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS387906849 BAP1 Health Risk Pathogenic/Likely pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS387906850 SMAD3 Health Risk Pathogenic/Likely pathogenic Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS387906851 SMAD3 Health Risk Likely pathogenic Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS387906852 SMAD3 Health Risk Likely pathogenic Aneurysm-osteoarthritis syndrome, Aneurysm-osteoarthritis syndrome
RS387906853 SMAD3 Health Risk risk factor Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS387906854 SMAD3 Health Risk Pathogenic/Likely pathogenic Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS387906855 SMAD3 Health Risk Conflicting classifications of pathogenicity Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS387906856 SMAD3 Health Risk Conflicting classifications of pathogenicity Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS387906857 SMARCE1 Health Risk Pathogenic Coffin-Siris syndrome 5, Familial meningioma
RS387906858 KCNJ13 Health Risk Pathogenic Leber congenital amaurosis 16, Leber congenital amaurosis 16
RS387906859 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS387906860 ABCC6 Health Risk Pathogenic Arterial calcification, generalized
RS387906861 CRADD Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 34
RS387906862 TRPM1 Health Risk Likely pathogenic Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS387906863 PLA2G6 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Parkinson disease 14, PLA2G6-associated neurodegeneration
RS387906864 PLA2G6 Health Risk Pathogenic Autosomal recessive Parkinson disease 14, Autosomal recessive Parkinson disease 14
RS387906865 AIMP1 Health Risk Pathogenic Hypomyelinating leukodystrophy 3, Hypomyelinating leukodystrophy 3
RS387906866 ADAM17 Health Risk Pathogenic Inflammatory skin and bowel disease, neonatal
RS387906867 SIX3 Health Risk Pathogenic Schizencephaly, Holoprosencephaly 2
RS387906870 ABCG2 Health Risk Conflicting classifications of pathogenicity BLOOD GROUP, JUNIOR SYSTEM
RS387906872 NDUFA10 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 22
RS387906873 NDUFA10 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 22
RS387906874 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS387906875 BAG3 Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1HH, Primary dilated cardiomyopathy
RS387906876 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS387906877 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS387906878 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS387906879 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS387906880 CLDN16 Health Risk Pathogenic Primary hypomagnesemia, Primary hypomagnesemia
RS387906881 GOSR2 Health Risk Pathogenic Progressive myoclonic epilepsy type 6, Muscular dystrophy
RS387906882 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Myofibrillar myopathy 3
RS387906883 LRP4 Health Risk Conflicting classifications of pathogenicity Sclerosteosis 2, Congenital myasthenic syndrome 17
RS387906885 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases
RS387906886 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, MAN1B1-related disorder
RS387906887 LAMC3 Health Risk Pathogenic Occipital pachygyria and polymicrogyria, Occipital pachygyria and polymicrogyria
RS387906889 AFG3L2 Health Risk Pathogenic Spastic ataxia 5, Spastic ataxia 5
RS387906890 NEK1 Health Risk Likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, NEK1-related disorder
RS387906893 DIABLO Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 64, Autosomal dominant nonsyndromic hearing loss 64
RS387906894 CORIN Health Risk Pathogenic Preeclampsia/eclampsia 5, Preeclampsia/eclampsia 5
RS387906895 CORIN Health Risk Pathogenic Preeclampsia/eclampsia 5, Preeclampsia/eclampsia 5
RS387906896 NCSTN Health Risk Pathogenic Acne inversa, familial
RS387906897 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 17, Hypertrophic cardiomyopathy 1
RS387906898 JPH2 Health Risk Pathogenic Hypertrophic cardiomyopathy 17, Hypertrophic cardiomyopathy 17
RS387906899 OPA1 Health Risk Likely pathogenic Optic atrophy with or without deafness, ophthalmoplegia
RS387906900 OPA1 Health Risk Pathogenic Optic atrophy with or without deafness, ophthalmoplegia
RS387906901 OPA1 Health Risk Pathogenic Optic atrophy with or without deafness, ophthalmoplegia
RS387906902 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Neuromuscular disease
RS387906904 TRPV4 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2C, Neuronopathy
RS387906905 TRPV4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2C, Neuromuscular disease
RS387906906 TRPV4 Health Risk Pathogenic Metatropic dysplasia, Neuromuscular disease
RS387906907 TRPV4 Health Risk Pathogenic Metatropic dysplasia, Neuromuscular disease
RS387906910 ABCB6 Health Risk Pathogenic Microphthalmia, isolated
RS387906912 ABCG5 Health Risk Pathogenic Sitosterolemia 2, Sitosterolemia 2
RS387906913 IL17RA Health Risk Pathogenic Immunodeficiency 51, Immunodeficiency 51
RS387906914 IL36RN Health Risk Pathogenic Generalized pustular psoriasis, Acrodermatitis continua suppurativa of Hallopeau
RS387906915 TMPRSS3 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS387906916 ELOVL4 Health Risk Pathogenic/Likely pathogenic Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome, Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
RS387906917 CDT1 Health Risk Pathogenic/Likely pathogenic Meier-Gorlin syndrome 4, Meier-Gorlin syndrome
RS387906918 CDT1 Health Risk Pathogenic Meier-Gorlin syndrome 4, Meier-Gorlin syndrome 4
RS387906920 FOXL2 Health Risk Pathogenic BLEPHAROPHIMOSIS, PTOSIS
RS387906921 RIPK4 Health Risk Pathogenic Bartsocas-Papas syndrome 1, Bartsocas-Papas syndrome 1
RS387906922 RIPK4 Health Risk Pathogenic Bartsocas-Papas syndrome 1, Bartsocas-Papas syndrome 1
RS387906923 RIPK4 Health Risk Pathogenic Bartsocas-Papas syndrome 1, Bartsocas-Papas syndrome 1
RS387906924 MRPS22 Health Risk Pathogenic Hypotonia with lactic acidemia and hyperammonemia, Hypotonia with lactic acidemia and hyperammonemia
RS387906926 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS387906927 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS387906928 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS387906929 ATP5F1E Health Risk Pathogenic Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3
RS387906930 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram-like syndrome, Wolfram syndrome 1
RS387906932 SHANK3 Health Risk Pathogenic Schizophrenia 15, Intellectual disability
RS387906933 SHANK3 Health Risk Pathogenic Schizophrenia 15, Schizophrenia 15
RS387906934 DICER1 Health Risk Likely pathogenic Euthyroid goiter, DICER1-related tumor predisposition
RS387906935 TPK1 Health Risk Pathogenic Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
RS387906936 TPK1 Health Risk Conflicting classifications of pathogenicity Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Inborn genetic diseases
RS387906937 B3GAT3 Health Risk Pathogenic/Likely pathogenic Larsen-like syndrome, B3GAT3 type
RS387906938 DHCR24 Health Risk Pathogenic Desmosterolosis, Desmosterolosis
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