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
RS146063839 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1460639961 TRIO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146064714 MTTP Health Risk Pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS146064786 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS146066080 GYG2 Health Risk Conflicting classifications of pathogenicity —
RS146066701 ZNF513 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS146066919 COG1 Health Risk Conflicting classifications of pathogenicity COG1 congenital disorder of glycosylation, COG1-related disorder
RS146067304 ACVR2B Health Risk Conflicting classifications of pathogenicity Heterotaxy, visceral
RS146067670 DNAAF11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 19, Primary ciliary dyskinesia
RS146067766 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS1460691341 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS146069247 ATP2B2 Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal dominant 82
RS146069933 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, CAPN3-related disorder
RS1460702087 BLTP1 Health Risk Likely pathogenic Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome
RS1460702652 HK1 Health Risk Pathogenic —
RS146070496 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS146071084 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1460714146 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS146071423 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS146072191 VPS13C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, VPS13C-related disorder
RS146073007 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS146073498 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis
RS146074751 MOCS2 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Inborn genetic diseases
RS146075543 ERCC6L2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ERCC6L2-related disorder
RS146075696 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS146075796 MOCS1 Health Risk Pathogenic/Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS146075981 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related disorder
RS146076380 CEP135 Health Risk Pathogenic/Likely pathogenic Microcephaly 8, primary
RS1460766783 UROD Health Risk Pathogenic —
RS146076683 LIPI Health Risk Conflicting classifications of pathogenicity —
RS146076691 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS146077019 RECQL Health Risk Conflicting classifications of pathogenicity Hereditary cancer, RECON progeroid syndrome
RS1460775726 BMP4 Health Risk Conflicting classifications of pathogenicity Orofacial cleft 11, Microphthalmia with brain and digit anomalies
RS1460776110 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS146077729 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Inborn genetic diseases
RS146077746 DYNC2I2 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
RS146077918 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS146078508 CLCN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146078928 LARGE1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS1460793472 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1460796923 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS1460797649 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Inborn genetic diseases
RS1460801055 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS1460811017 FUT8 Health Risk Pathogenic Congenital disorder of glycosylation with defective fucosylation 1, Inborn genetic diseases
RS146081967 RFX6 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, RFX6-related disorder
RS146082418 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS146082509 ADGRV1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome type 2C
RS1460825110 GNAT1 Health Risk Likely pathogenic —
RS146083590 DCTN1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS146083613 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1460843145 DCLRE1C Health Risk Pathogenic/Likely pathogenic Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency
RS1460849632 CD40 Health Risk Pathogenic —
RS1460858565 ELP1 Health Risk Pathogenic —
RS1460859456 NDP Health Risk Likely pathogenic Exudative vitreoretinopathy 2, X-linked
RS146085955 GGCX Health Risk Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of
RS146086141 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1460868239 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS146087064 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1460888052 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1460888769 SDCCAG8 Health Risk Likely pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS146089082 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MACF1-related disorder
RS146089157 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS146090207 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Vitreoretinopathy
RS146091004 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS146092290 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS146092501 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS146092558 SPG21 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Mast syndrome
RS146092707 PPP1R3A Health Risk Conflicting classifications of pathogenicity —
RS1460932284 DSC2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS1460932486 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS1460933711 ATR Health Risk Pathogenic —
RS146093652 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Inborn genetic diseases
RS146093755 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS146093871 RHD Health Risk risk factor Hemolytic disease of fetus OR newborn due to RhD isoimmunization, Anti-D isoimmunization affecting pregnancy
RS1460946384 CRB1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS146095590 SLC17A5 Health Risk Likely pathogenic Sialic acid storage disease, severe infantile type
RS146096134 STAT2 Health Risk Conflicting classifications of pathogenicity Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Inborn genetic diseases
RS146096923 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS146097023 SLC34A3 Health Risk Conflicting classifications of pathogenicity SLC34A3-related disorder, SLC34A3-related disorder
RS146098780 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS146099322 SPR Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency
RS146100011 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS146100580 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
RS1461006300 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS1461012195 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS146102132 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Inborn genetic diseases
RS146102241 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS1461028276 ZNF341 Health Risk Likely pathogenic —
RS1461028383 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1461031913 TMEM126B Health Risk Pathogenic —
RS1461036243 PARN Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 6
RS146104287 FAT2 Health Risk Conflicting classifications of pathogenicity Thyroid cancer, nonmedullary
RS1461043339 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS146104858 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS1461050152 GORAB Health Risk Pathogenic Geroderma osteodysplastica, Geroderma osteodysplastica
RS146105017 CYP11B1 Health Risk Conflicting classifications of pathogenicity Glucocorticoid-remediable aldosteronism, Deficiency of steroid 11-beta-monooxygenase
RS1461051435 TNNT1 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 5, Nemaline myopathy 5
RS146105340 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1461056808 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS146106537 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases
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