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
RS113902534 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS113904256 FBN1 Health Risk Conflicting classifications of pathogenicity Stiff skin syndrome, Marfan syndrome
RS113905529 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS113908000 SNF8 Health Risk Pathogenic SNF8-associated disease, Neurodevelopmental disorder plus optic atrophy
RS113913634 PREPL Health Risk Conflicting classifications of pathogenicity Myasthenic syndrome, congenital
RS113916636 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS113917021 FZD4 Health Risk Conflicting classifications of pathogenicity —
RS113917053 STAB2 Health Risk Conflicting classifications of pathogenicity —
RS113920122 SALL4 Health Risk Conflicting classifications of pathogenicity Duane-radial ray syndrome, Inborn genetic diseases
RS113925756 CELSR2 Health Risk Conflicting classifications of pathogenicity —
RS113925788 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS113928116 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS113929946 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS113930974 ENG Health Risk Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS113930991 MYH11 Health Risk Likely pathogenic Aortic aneurysm, familial thoracic 4
RS113931414 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS113932941 CYBA Health Risk Pathogenic Granulomatous disease, chronic
RS113935744 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS113936232 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis
RS113938044 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS113938200 MASP1 Health Risk Conflicting classifications of pathogenicity 3MC syndrome 1, Monogenic hearing loss
RS113938624 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS113944762 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS113947687 SERPINF1 Health Risk Likely pathogenic —
RS113950465 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS113951193 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS1139522 ABAT Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS113954699 ST3GAL3 Health Risk Conflicting classifications of pathogenicity Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS113954997 RRAS2 Health Risk Pathogenic Noonan syndrome 12, Ovarian neoplasm
RS113962887 GGCX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS113962905 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS113963967 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS113967308 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS113967847 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS113972139 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS113972676 FLNC Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS113981920 TSEN2 Health Risk Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS113982129 TCIRG1 Health Risk Likely pathogenic —
RS113984451 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS113984578 TNNT2 Health Risk Likely pathogenic —
RS113989128 LRRK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LRRK1-related disorder
RS113989591 MYH11 Health Risk Likely pathogenic Aortic aneurysm, familial thoracic 4
RS113993943 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS113993945 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS113993946 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 2, severe form
RS113993947 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS113993948 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS113993949 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS113993951 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS113993952 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS113993953 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS113993954 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS113993955 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS113993956 MYH14 Health Risk Pathogenic Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome, Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
RS113993958 CFTR Health Risk Likely pathogenic Cystic fibrosis, ivacaftor response - Efficacy
RS113993959 CFTR Health Risk Pathogenic Cystic fibrosis, Hereditary pancreatitis
RS113993960 CFTR Health Risk Pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS113993961 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS113993962 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS113993963 TP63 Health Risk Pathogenic ADULT syndrome, ADULT syndrome
RS113993965 TP63 Health Risk Pathogenic TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS113993966 TP63 Health Risk Pathogenic/Likely pathogenic ADULT syndrome, TP63-related disorder
RS113993967 TP63 Health Risk Pathogenic/Likely pathogenic ADULT syndrome, TP63-Related Spectrum Disorders
RS113993968 HTRA1 Health Risk Pathogenic CARASIL syndrome, Cerebral arteriopathy
RS113993969 HTRA1 Health Risk Pathogenic CARASIL syndrome, CARASIL syndrome
RS113993970 HTRA1 Health Risk Pathogenic/Likely pathogenic CARASIL syndrome, Cognitive impairment
RS113993971 HTRA1 Health Risk Pathogenic/Likely pathogenic CARASIL syndrome, HTRA1-related cerebral small vessel disease
RS113993973 PYGL Health Risk Pathogenic Glycogen storage disease, type VI
RS113993974 PYGL Health Risk Pathogenic Glycogen storage disease, type VI
RS113993975 PYGL Health Risk Pathogenic Glycogen storage disease, type VI
RS113993976 PYGL Health Risk Pathogenic Glycogen storage disease, type VI
RS113993977 PYGL Health Risk Pathogenic Glycogen storage disease, type VI
RS113993978 PYGL Health Risk Pathogenic Glycogen storage disease, type VI
RS113993979 PYGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type VI
RS113993980 PYGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VI
RS113993981 PYGL Health Risk Pathogenic Glycogen storage disease, type VI
RS113993982 PYGL Health Risk Pathogenic Glycogen storage disease, type VI
RS113993986 PYGL Health Risk Likely pathogenic Glycogen storage disease, type VI
RS113993990 SBDS Health Risk Pathogenic Shwachman-Diamond syndrome 1, Aplastic anemia
RS113993991 SBDS Health Risk Pathogenic Shwachman-Diamond syndrome 1, Inborn genetic diseases
RS113993992 SBDS Health Risk Pathogenic Shwachman-Diamond syndrome 1, Aplastic anemia
RS113993993 SBDS Health Risk Pathogenic/Likely pathogenic Aplastic anemia, susceptibility to
RS113993994 SBDS Health Risk Pathogenic Shwachman-Diamond syndrome 1, Aplastic anemia
RS113993996 SBDS Health Risk Conflicting classifications of pathogenicity Shwachman-Diamond syndrome 1, Aplastic anemia
RS113993997 SBDS Health Risk Likely pathogenic Shwachman-Diamond syndrome 1, Aplastic anemia
RS113993998 SBDS Health Risk Pathogenic/Likely pathogenic Shwachman-Diamond syndrome 1, Aplastic anemia
RS113994006 EIF2B1 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 1
RS113994011 EIF2B2 Health Risk Likely pathogenic —
RS113994012 EIF2B2 Health Risk Pathogenic/Likely pathogenic Vanishing white matter disease, See cases
RS113994014 EIF2B2 Health Risk Pathogenic Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 2
RS113994016 EIF2B2 Health Risk Pathogenic/Likely pathogenic Premature ovarian insufficiency, Vanishing white matter disease
RS113994017 EIF2B2 Health Risk Pathogenic Vanishing white matter disease, Vanishing white matter disease
RS113994018 EIF2B2 Health Risk Pathogenic/Likely pathogenic Vanishing white matter disease, Vanishing white matter disease
RS113994022 EIF2B3 Health Risk Pathogenic/Likely pathogenic Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 3
RS113994024 EIF2B3 Health Risk Pathogenic Leukoencephalopathy with vanishing white matter 3, Vanishing white matter disease
RS113994026 EIF2B3 Health Risk Pathogenic Leukoencephalopathy with vanishing white matter 3, Leukoencephalopathy with vanishing white matter 3
RS113994027 EIF2B4 Health Risk Pathogenic Leukoencephalopathy with vanishing white matter 4, Leukoencephalopathy with vanishing white matter 4
RS113994028 EIF2B4 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Inborn genetic diseases
RS113994030 EIF2B4 Health Risk Pathogenic/Likely pathogenic Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 4
RS113994032 EIF2B4 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with vanishing white matter 4, Leukoencephalopathy with vanishing white matter 4
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