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
RS779221957 MANBA Health Risk Pathogenic/Likely pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS779222449 CDH23 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12
RS779223305 FGFR1 Health Risk Conflicting classifications of pathogenicity Encephalocraniocutaneous lipomatosis, Pfeiffer syndrome
RS779225248 PIGQ Health Risk Conflicting classifications of pathogenicity Epilepsy, Inborn genetic diseases
RS779226644 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS779227133 PKD1 Health Risk Likely pathogenic —
RS779227414 TELO2 Health Risk Likely pathogenic TELO2-related intellectual disability-neurodevelopmental disorder, TELO2-related intellectual disability-neurodevelopmental disorder
RS779228375 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS779228581 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Inborn genetic diseases
RS779228663 ZNF469 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Brittle cornea syndrome 1
RS779229970 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS779230173 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS779232987 LGI4 Health Risk Pathogenic Arthrogryposis multiplex congenita 1, neurogenic
RS779233737 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS779234204 GLRA1 Health Risk Conflicting classifications of pathogenicity Hereditary hyperekplexia, Inborn genetic diseases
RS779235200 CENPF Health Risk Likely pathogenic —
RS779236098 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS779237423 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS779238030 OTOG Health Risk Conflicting classifications of pathogenicity —
RS779240170 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS779241085 SLC39A8 Health Risk Conflicting classifications of pathogenicity SLC39A8-CDG, SLC39A8-CDG
RS779241371 PKP2 Health Risk Likely pathogenic Cardiovascular phenotype, Arrhythmogenic right ventricular cardiomyopathy
RS779241409 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS779242111 ASXL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779242170 ATL3 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS779242197 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS779242343 DCLRE1C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Severe combined immunodeficiency due to DCLRE1C deficiency
RS779242644 ZFYVE26 Health Risk Likely pathogenic —
RS779242861 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS779243355 TSHR Health Risk Pathogenic —
RS779243533 PET100 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779245706 PCK1 Health Risk Conflicting classifications of pathogenicity Phosphoenolpyruvate carboxykinase deficiency, cytosolic
RS779246304 EEF1A2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 33
RS779246448 PTPRC Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS779246705 PDGFRA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
RS779246898 SAMD9L Health Risk Conflicting classifications of pathogenicity SAMD9L-related disorder, SAMD9L-related disorder
RS779247029 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS779247145 C5 Health Risk Conflicting classifications of pathogenicity Complement component 5 deficiency, Eculizumab
RS779247451 ALAS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779248881 MCM3AP Health Risk Pathogenic/Likely pathogenic Peripheral neuropathy, autosomal recessive
RS779248938 SACS Health Risk Pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS779249550 SDHD Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS779250530 HK1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4G, Neurodevelopmental disorder with visual defects and brain anomalies
RS779250698 CBS Health Risk Pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS779250701 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS779251147 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS779252535 COL2A1 Health Risk Conflicting classifications of pathogenicity Achondrogenesis type II, Achondrogenesis type II
RS779253041 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS779253471 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS779253646 GFM1 Health Risk Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Inborn genetic diseases
RS779254943 ELAC2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 17, Melanoma
RS779255588 CEP152 Health Risk Conflicting classifications of pathogenicity Seckel syndrome 5, Microcephaly 9
RS779256175 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS779259191 PSPH Health Risk Conflicting classifications of pathogenicity Deficiency of phosphoserine phosphatase, Inborn genetic diseases
RS779260568 ARL13B Health Risk Conflicting classifications of pathogenicity Joubert syndrome 8, Joubert syndrome and related disorders
RS779260688 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS779261213 TYRP1 Health Risk Pathogenic/Likely pathogenic TYRP1-related disorder, Oculocutaneous albinism type 3
RS779261547 AFF4 Health Risk Conflicting classifications of pathogenicity Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome, AFF4-related disorder
RS779261850 HTRA1 Health Risk Conflicting classifications of pathogenicity —
RS779262121 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS779262951 CEP290 Health Risk Pathogenic Joubert syndrome 5, Joubert syndrome 5
RS779263877 G6PC1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS779264604 SCARF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779264975 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 15
RS779265988 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS779268551 SPG11 Health Risk Pathogenic Amyotrophic lateral sclerosis type 5, Charcot-Marie-Tooth disease axonal type 2X
RS779268926 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS779269083 MRE11 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS779269348 AP5Z1 Health Risk Likely pathogenic Inborn genetic diseases, Hereditary spastic paraplegia 48
RS779269724 CYP7A1 Health Risk Conflicting classifications of pathogenicity CYP7A1-related disorder, CYP7A1-related disorder
RS779270349 PRPF31 Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 11
RS779270933 CBS Health Risk Conflicting classifications of pathogenicity Homocystinuria, HYPERHOMOCYSTEINEMIA
RS779270984 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS779271284 DST Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS779272128 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram-like syndrome
RS779272258 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS779273534 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS779275317 EVC Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS779275341 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS779277447 SCN3B Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS779278368 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS779278389 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS779279055 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS779279335 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS779279429 SLC16A1 Health Risk Conflicting classifications of pathogenicity Exercise-induced hyperinsulinism, Exercise-induced hyperinsulinism
RS779281265 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS779281649 SCLT1 Health Risk Conflicting classifications of pathogenicity SCLT1-related disorder, SCLT1-related disorder
RS779281806 PDE6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779282053 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS779282500 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Fibrochondrogenesis 1
RS779282547 VRK1 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 1A, Neuronopathy
RS779282861 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS779283285 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS779283679 PRPF6 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS779283808 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Acromelic frontonasal dysostosis, Inborn genetic diseases
RS779283834 TRPM1 Health Risk Likely pathogenic —
RS779284353 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS779284513 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS779286010 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS779286671 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
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