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
RS777498088 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS777498634 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS777499631 STXBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS77749967 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS777499923 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2
RS7775 FRZB Health Risk Benign; risk factor FRZB-related disorder, Osteoarthritis susceptibility 1
RS777501387 TMEM70 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS777501680 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS777501717 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS777503956 AK2 Health Risk Pathogenic/Likely pathogenic Reticular dysgenesis, Severe combined immunodeficiency disease
RS777504801 SLC45A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777504868 NDUFS7 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 3
RS777505173 CFHR5 Health Risk Conflicting classifications of pathogenicity CFHR5 deficiency, Inborn genetic diseases
RS777505242 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS777505318 G6PC3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, G6PC3-related disorder
RS777505460 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS777505684 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS777505711 EVC2 Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS777505893 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS777506210 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS777506416 SPATA7 Health Risk Likely pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS777508704 GFPT1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
RS777508961 TTC21B Health Risk Pathogenic Nephronophthisis, Jeune thoracic dystrophy
RS777509481 CNGA3 Health Risk Pathogenic/Likely pathogenic Achromatopsia 2, Achromatopsia
RS777510154 NEU1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777510517 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS777510836 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS777510962 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS777512182 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS777512845 KCNQ5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777515179 CYP1B1 Health Risk Pathogenic/Likely pathogenic Congenital glaucoma, Anterior segment dysgenesis 6
RS777516785 USP11 Health Risk Likely pathogenic Dynein arm defect of respiratory motile cilia, Absent inner and outer dynein arms
RS777517753 TPRN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777517901 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS777517985 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS777518062 ADAMTS18 Health Risk Pathogenic —
RS777518512 TCAP Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy 25
RS777519184 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS777519235 IFT80 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS777519959 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS777520196 RIT1 Health Risk Pathogenic/Likely pathogenic Noonan syndrome 8, Noonan syndrome and Noonan-related syndrome
RS777520243 VLDLR Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
RS777523100 PDE6A Health Risk Pathogenic —
RS777524361 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS777524402 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS777525101 TOE1 Health Risk Likely pathogenic See cases, See cases
RS777525949 FLVCR1 Health Risk Pathogenic/Likely pathogenic —
RS777527386 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome and related disorders
RS777527675 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS777528044 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS777529733 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS777532127 ADIPOQ Health Risk Pathogenic Adiponectin deficiency, Adiponectin deficiency
RS777532861 COX15 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Inborn genetic diseases
RS777533386 POMT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS777534414 PRPH2 Health Risk Likely pathogenic PRPH2-related disorder, PRPH2-related disorder
RS777536580 BCL11B Health Risk Conflicting classifications of pathogenicity —
RS77753666 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS777537805 ASXL1 Health Risk Pathogenic Inborn genetic diseases, Bohring-Opitz syndrome
RS777538550 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS777539013 PNPLA2 Health Risk Pathogenic Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS777539610 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS777540844 SLC34A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive hypophosphatemic bone disease
RS777542762 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2
RS777543027 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS777543198 FLVCR1 Health Risk Likely pathogenic —
RS777543770 AMER1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777543926 SLC34A1 Health Risk Pathogenic/Likely pathogenic Hypercalcemia, infantile
RS777544121 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS777544552 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS777545405 FUS Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 6, Tremor
RS777545428 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS777546040 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS777546492 GANAB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, GANAB-related disorder
RS777547090 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS777547707 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Dilated cardiomyopathy 1G
RS777548072 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS777548973 MTTP Health Risk Pathogenic/Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS777551011 SRD5A3 Health Risk Pathogenic/Likely pathogenic Abnormal optic nerve morphology, Abnormal optic nerve morphology
RS777552825 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
RS777554369 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS777554660 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS777555935 CABP4 Health Risk Pathogenic/Likely pathogenic Cone-rod synaptic disorder, congenital nonprogressive
RS777556535 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS777556837 INVS Health Risk Likely pathogenic Nephronophthisis, Infantile nephronophthisis
RS777557012 ARID1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 14
RS777557874 ALG8 Health Risk Conflicting classifications of pathogenicity ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts
RS777558836 PARN Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 6
RS777558951 DST Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary sensory and autonomic neuropathy type 6
RS777560818 AMN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Inborn genetic diseases
RS777561677 TRIOBP Health Risk Pathogenic Hearing loss, autosomal recessive
RS777563958 C5 Health Risk Conflicting classifications of pathogenicity —
RS777564086 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS777564374 NLRP2 Health Risk Conflicting classifications of pathogenicity Oocyte/zygote/embryo maturation arrest 18, Oocyte/zygote/embryo maturation arrest 18
RS777565219 MOCS2 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
RS777565396 INSR Health Risk Uncertain significance/Uncertain risk allele Leprechaunism syndrome, Rabson-Mendenhall syndrome
RS777567666 KAT6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Genitopatellar syndrome
RS777568201 HDAC4 Health Risk Conflicting classifications of pathogenicity Chromosome 2q37 deletion syndrome, Neurodevelopmental disorder with central hypotonia and dysmorphic facies
RS777570288 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS777570812 KIF15 Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS777571943 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis syndrome
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