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
RS760731229 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS760731362 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, TNXB-related disorder
RS760731888 FKTN Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2M
RS760732001 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS760733168 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS760733246 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS760733250 FAT4 Health Risk Pathogenic —
RS760733336 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760733415 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS760733624 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS760733794 GFM1 Health Risk Conflicting classifications of pathogenicity —
RS760734290 AP5Z1 Health Risk Pathogenic Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS760734519 F5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital factor V deficiency
RS760734578 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 15, Primary ciliary dyskinesia
RS760735058 KCNA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Atrial fibrillation
RS760735556 IL2RG Health Risk Conflicting classifications of pathogenicity X-linked severe combined immunodeficiency, Inborn genetic diseases
RS760735952 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Cone-rod dystrophy 3
RS760736029 SRRM2 Health Risk Pathogenic Neurodevelopmental disorder, Intellectual developmental disorder
RS760736597 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS760738460 FANCG Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS760738611 MYH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760738833 FSCN2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS760739609 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS760739660 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS760739894 PEX12 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B
RS760740877 CLCN7 Health Risk Conflicting classifications of pathogenicity Autosomal dominant osteopetrosis 2, Autosomal dominant osteopetrosis 2
RS760741211 ORC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760741667 CRX Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS760742688 CTSA Health Risk Conflicting classifications of pathogenicity Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS760742856 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS760742879 FOXP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability-severe speech delay-mild dysmorphism syndrome, Inborn genetic diseases
RS760743983 CHD5 Health Risk Likely pathogenic Seizure, CHD5-related disorder
RS760744104 CACNA1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Episodic ataxia type 2
RS760744943 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS760745824 COL2A1 Health Risk Conflicting classifications of pathogenicity COL2A1-related disorder, Inborn genetic diseases
RS760746355 TJP2 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS760746927 PMPCB Health Risk Likely pathogenic Multiple mitochondrial dysfunctions syndrome 6, Multiple mitochondrial dysfunctions syndrome 6
RS760747768 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760749276 ARID1A Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, ARID1A-related disorder
RS760750012 ABCB11 Health Risk Pathogenic/Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis
RS760750644 PTPN23 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
RS760751244 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS760751280 OCRL Health Risk Conflicting classifications of pathogenicity Dent disease type 2, Lowe syndrome
RS760752847 SNX14 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20
RS760753512 MATN3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760754021 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS760754357 FRAS1 Health Risk Pathogenic —
RS7607544 NCKAP5 Health Risk Conflicting classifications of pathogenicity —
RS760754746 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS760755040 KCNV2 Health Risk Likely pathogenic Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS760755215 CHD1 Health Risk Conflicting classifications of pathogenicity Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome
RS760756412 ARL13B Health Risk Pathogenic Joubert syndrome 8, Joubert syndrome 8
RS760757416 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS760759040 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS760759052 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS760759330 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS760759446 GP1BA Health Risk Conflicting classifications of pathogenicity Bernard Soulier syndrome, Bernard-Soulier syndrome
RS760760319 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS760760475 DONSON Health Risk Pathogenic —
RS760762106 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS760762170 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS76076247 IFT172 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS760762822 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, TTN-related myopathy
RS760763801 EGFR Health Risk Conflicting classifications of pathogenicity Lung carcinoma, EGFR-related lung cancer
RS760763815 WNT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS76076446 RAX2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS760766981 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 40
RS760767010 DHTKD1 Health Risk Likely pathogenic 2-aminoadipic 2-oxoadipic aciduria, Thymoma
RS760768093 TTN Health Risk Pathogenic/Likely pathogenic Decreased patellar reflex, Proximal lower limb amyotrophy
RS760768357 KIZ Health Risk Pathogenic —
RS760768451 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS760768475 TOR1A Health Risk Pathogenic/Likely pathogenic Early-onset generalized limb-onset dystonia, Arthrogryposis multiplex congenita 5
RS760768552 NOTCH3 Health Risk Pathogenic/Likely pathogenic NOTCH3-related disorder, Cerebral arteriopathy
RS760768642 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS760768992 MLYCD Health Risk Pathogenic/Likely pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS760769176 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS76077021 INSR Health Risk Conflicting classifications of pathogenicity Insulin-resistant diabetes mellitus AND acanthosis nigricans, Hyperinsulinism due to INSR deficiency
RS760770847 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS760771193 NIPBL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cornelia de Lange syndrome 1
RS760771706 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1
RS760771756 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS760771835 NR2E3 Health Risk Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS760773155 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS760773605 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS760774999 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS760775347 CHD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CHARGE syndrome
RS760775607 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS760778054 CSNK2A1 Health Risk Likely pathogenic —
RS760778129 GLI3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polydactyly
RS760778437 LAMA5 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS760778496 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760779996 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS760780588 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiomyopathy
RS760780597 SLC45A2 Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS760780770 ABCA4 Health Risk Pathogenic —
RS760781650 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS760782001 ZEB2 Health Risk Conflicting classifications of pathogenicity Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, Mowat-Wilson syndrome
RS760782238 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS760782298 BRIP1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS760782399 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
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