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
RS139716832 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139717038 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, PC-related disorder
RS1397172310 SCUBE3 Health Risk Pathogenic Abnormality of the dentition, Abnormal facial shape
RS139717885 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy
RS139717960 EYA1 Health Risk Pathogenic Branchiootic syndrome 1, Otofaciocervical syndrome 1
RS1397179790 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS1397179937 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS139718245 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, LAMC2-related disorder
RS1397184823 CYP21A2 Health Risk Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS1397187132 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1397187284 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS1397189983 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1397197980 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
RS139719918 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Intellectual disability
RS1397203669 COQ2 Health Risk Likely pathogenic —
RS1397203869 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS139720910 COL2A1 Health Risk Conflicting classifications of pathogenicity COL2A1-related disorder, COL2A1-related disorder
RS139721499 TMEM67 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1397215259 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS139721632 RARS2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 6, Inborn genetic diseases
RS139722128 CHRND Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
RS1397221551 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1397223617 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS139722450 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1397227137 KCNQ2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1397237820 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS139724326 PAX2 Health Risk Pathogenic Renal coloboma syndrome, PAX2-related disorder
RS139724817 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Hepatoblastoma
RS1397256061 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS139725835 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-related disorder
RS139726186 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS1397263011 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy
RS1397264922 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS139726856 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS139727620 CDKN1B Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4
RS1397283663 OFD1 Health Risk Pathogenic Orofaciodigital syndrome I, Joubert syndrome
RS1397294905 RAG2 Health Risk Likely pathogenic Combined immunodeficiency with skin granulomas, Combined immunodeficiency with skin granulomas
RS139729994 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS139730198 GLB1 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-B
RS1397305271 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS139730838 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP3-related Meckel-like syndrome
RS139730890 VCAN Health Risk Conflicting classifications of pathogenicity Wagner disease, Vitreoretinopathy
RS1397310290 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS139731330 OPA3 Health Risk Conflicting classifications of pathogenicity Optic atrophy 3, 3-Methylglutaconic aciduria type 3
RS139731592 SUCLG1 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS139731614 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS139732310 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS139732336 CNTN2 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial adult myoclonic
RS139732381 CNTN2 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial adult myoclonic
RS139732572 FTL Health Risk Conflicting classifications of pathogenicity L-ferritin deficiency, Hereditary hyperferritinemia with congenital cataracts
RS139733647 ARHGAP31 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139734328 PKP2 Health Risk Conflicting classifications of pathogenicity Familial isolated arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular cardiomyopathy
RS1397344379 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS139734678 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS1397350089 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS139736411 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS1397377820 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS1397378666 TPP2 Health Risk Pathogenic Evans syndrome, immunodeficiency
RS139738333 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, PHKB-related disorder
RS139738701 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS139739075 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1397398300 POT1 Health Risk Pathogenic/Likely pathogenic Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1397399631 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1397401279 ACO2 Health Risk Pathogenic Infantile cerebellar-retinal degeneration, Infantile cerebellar-retinal degeneration
RS1397410765 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS139742336 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, TH-related disorder
RS139742477 COASY Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 6, Pontocerebellar hypoplasia
RS139743003 PASK Health Risk Conflicting classifications of pathogenicity PASK-related disorder, PASK-related disorder
RS1397432412 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS139743319 RBBP8 Health Risk Conflicting classifications of pathogenicity RBBP8-related disorder, RBBP8-related disorder
RS139743444 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS139743855 GLMN Health Risk Conflicting classifications of pathogenicity Glomuvenous malformation, Inborn genetic diseases
RS139743858 HSPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1397440217 NTHL1 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS1397448267 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS139745647 RSPH4A Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS139746572 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Inborn genetic diseases
RS1397467879 CTR9 Health Risk Likely pathogenic CTR9-related neurodevelopmental disorder, CTR9-related neurodevelopmental disorder
RS139747670 DARS2 Health Risk Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS139747674 PRICKLE2 Health Risk Conflicting classifications of pathogenicity Myoclonic epilepsy, progressive
RS139747783 SERPINA3 Health Risk Conflicting classifications of pathogenicity SERPINA3-related disorder, SERPINA3-related disorder
RS1397478363 POMT1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1397480575 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1397494237 RET Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS139749569 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS1397496181 BBS5 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Inborn genetic diseases
RS139750085 FCHO1 Health Risk Conflicting classifications of pathogenicity —
RS139750129 ADA2 Health Risk Pathogenic Deficiency of adenosine deaminase 2, Sneddon syndrome
RS1397510746 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS139751448 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS139751598 PYCR1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive cutis laxa type 2B, Wiedemann-Rautenstrauch-like progeroid syndrome
RS1397523469 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS139753238 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1397535065 SNAP29 Health Risk Conflicting classifications of pathogenicity CEDNIK syndrome, CEDNIK syndrome
RS1397537890 PCARE Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 54
RS1397549896 CDH23 Health Risk Pathogenic Pituitary adenoma 5, multiple types
RS139756868 TMC8 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Inborn genetic diseases
RS1397572066 FOXRED1 Health Risk Pathogenic —
RS139757342 SLC24A1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1D, Congenital stationary night blindness 1D
RS1397579538 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
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