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
RS1261707371 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1261714833 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1261759648 NGLY1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of deglycosylation, Inborn genetic diseases
RS1261761196 PIK3R1 Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 7, autosomal recessive
RS1261771810 MYO7A Health Risk Pathogenic —
RS1261821166 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1261824175 PAX9 Health Risk Pathogenic Hypodontia, Hypodontia
RS1261833304 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS1261837542 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1261842321 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS1261895166 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1261914662 ACOX1 Health Risk Pathogenic Mitchell syndrome, Acyl-CoA oxidase deficiency
RS1261918364 DNAI2 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS1261920708 LINS1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1261929809 F8 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor VIII deficiency disease
RS1261932284 ILDR1 Health Risk Pathogenic —
RS1261939149 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS1261940378 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1261971124 NPAT Health Risk Conflicting classifications of pathogenicity —
RS1261991162 CLCN7 Health Risk Pathogenic Autosomal dominant osteopetrosis 2, Autosomal dominant osteopetrosis 2
RS12619995 SATB2 Health Risk Conflicting classifications of pathogenicity Chromosome 2q32-q33 deletion syndrome, Inborn genetic diseases
RS1262002209 F11 Health Risk Pathogenic/Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS1262020902 ASS1 Health Risk Likely pathogenic Citrullinemia, Citrullinemia
RS1262026315 ALPK3 Health Risk Likely pathogenic —
RS1262029350 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1262031967 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X
RS1262051629 COL7A1 Health Risk Pathogenic Pretibial dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS1262069856 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1262090219 MOCOS Health Risk Likely pathogenic Xanthinuria type II, Xanthinuria type II
RS1262117826 ESCO2 Health Risk Pathogenic/Likely pathogenic Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome
RS1262126778 ATAD1 Health Risk Pathogenic —
RS1262143079 TCF20 Health Risk Conflicting classifications of pathogenicity TCF20-related disorder, TCF20-related disorder
RS1262148583 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1262149055 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1262187089 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1262211844 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1262218849 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1262224787 GGCX Health Risk Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of
RS1262227887 CD3D Health Risk Likely pathogenic Immunodeficiency 19, Immunodeficiency 19
RS1262229619 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS1262243990 RDH12 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Leber congenital amaurosis 13
RS1262272674 CFAP44 Health Risk Pathogenic Spermatogenic failure 20, Spermatogenic failure 20
RS1262285748 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1262298247 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1262321199 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1262322008 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS1262346237 PYCR1 Health Risk Pathogenic —
RS1262360262 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1262368552 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1262402879 GGPS1 Health Risk Conflicting classifications of pathogenicity Myopathy, Sensorineural hearing loss disorder
RS1262407073 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS1262416703 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1262422383 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa
RS1262429321 TRIO Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder, autosomal dominant 63
RS1262433336 L1CAM Health Risk Likely pathogenic X-linked hydrocephalus syndrome, X-linked hydrocephalus syndrome
RS1262446492 TCTN3 Health Risk Pathogenic Joubert syndrome 18, Orofacial-digital syndrome IV
RS1262446616 DNASE1L3 Health Risk Pathogenic —
RS1262459682 SGCG Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS1262469737 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1262475195 GALT Health Risk Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1262486352 ABCA1 Health Risk Pathogenic —
RS1262500025 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Intellectual disability
RS1262515590 TDRD12 Health Risk Conflicting classifications of pathogenicity Male infertility, Male infertility
RS1262516728 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1262517518 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1262533485 DSP Health Risk Conflicting classifications of pathogenicity Wolff-Parkinson-White pattern, Cardiomyopathy
RS1262547488 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1262558494 QARS1 Health Risk Likely pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS1262562851 MAF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1262587749 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS1262607893 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome
RS1262620713 VPS50 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, seizures
RS1262627752 QDPR Health Risk Pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS1262633928 PROS1 Health Risk Likely pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS1262642807 ADAM22 Health Risk Pathogenic Developmental and epileptic encephalopathy, 61
RS1262652123 COL7A1 Health Risk Pathogenic —
RS1262654975 UNC80 Health Risk Pathogenic Hypotonia, infantile
RS1262666760 PAFAH1B1 Health Risk Conflicting classifications of pathogenicity Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS1262674788 RAPSN Health Risk Pathogenic Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS1262705178 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS1262719912 SALL1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, Townes syndrome
RS1262728824 COL7A1 Health Risk Pathogenic —
RS12627793 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1262807447 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1262817124 MTHFR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS1262848736 F8 Health Risk Pathogenic —
RS1262859688 AP3B2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 48
RS1262931604 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1262933234 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1262933856 EVC Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1262936822 MPL Health Risk Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS1262943621 HBA2 Health Risk Pathogenic/Likely pathogenic —
RS1262944393 FAT4 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS1262946696 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1262954618 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype
RS1262967003 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS1262967083 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS1262968798 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1262969313 RBM12 Health Risk Pathogenic Schizophrenia 19, Schizophrenia 19
RS1262970273 TFR2 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 3, Hereditary hemochromatosis
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