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
RS1237414916 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS1237424465 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS1237432906 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS1237437677 VAMP1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1237444643 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy
RS1237477468 CYFIP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1237492797 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1237494778 WDR19 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Asphyxiating thoracic dystrophy 5
RS1237535497 NEK9 Health Risk Pathogenic —
RS1237538373 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS1237541645 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1237544125 C3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1237546420 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS1237554305 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
RS1237574012 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS1237575383 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS1237600471 ITPR3 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, demyelinating
RS1237603270 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS1237605731 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1237606770 RETREG1 Health Risk Pathogenic —
RS1237620145 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS1237632090 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS1237637353 GBA1 Health Risk Pathogenic/Likely pathogenic Gaucher disease, Parkinson disease
RS1237654242 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kabuki syndrome
RS1237673210 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1237688115 LAMA3 Health Risk Pathogenic —
RS1237700879 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1237709439 LMF1 Health Risk Pathogenic —
RS1237714286 PKD1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1237724419 SCN5A Health Risk Pathogenic/Likely pathogenic Brugada syndrome, Brugada syndrome
RS1237725504 ERCC3 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS1237746431 CTSK Health Risk Pathogenic/Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS1237752481 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1237767989 TBX3 Health Risk Pathogenic Ulnar-mammary syndrome, Ulnar-mammary syndrome
RS1237783733 GUCY2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cone-rod dystrophy 6
RS1237792711 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1237793828 DDC Health Risk Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS1237794394 MYLK Health Risk Likely pathogenic Aortic aneurysm, familial thoracic 7
RS1237799214 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Nephronophthisis
RS1237818323 SLC4A11 Health Risk Pathogenic —
RS1237821935 WDR19 Health Risk Pathogenic Cranioectodermal dysplasia 4, Cranioectodermal dysplasia 4
RS1237829645 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1237832401 SLC27A4 Health Risk Pathogenic —
RS1237865460 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1237876686 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1237880782 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1237897972 TPRN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1237905737 LRP2 Health Risk Pathogenic —
RS1237907959 GLI2 Health Risk Likely pathogenic —
RS1237910576 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary breast ovarian cancer syndrome
RS1237915292 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS1237936911 DOCK8 Health Risk Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS1237954156 CNGA1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, CNGA1-related disorder
RS1237955948 TMPRSS3 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 8, Hearing loss
RS1237960253 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS1237982349 GNRHR Health Risk Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia
RS1237999856 EVC Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS1238001290 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1238035020 ERCC6 Health Risk Pathogenic —
RS1238054226 CDK5RAP2 Health Risk Likely pathogenic Microcephaly 3, primary
RS1238073820 LARS1 Health Risk Likely pathogenic Infantile liver failure syndrome 1, Infantile liver failure syndrome 1
RS1238075992 DOCK6 Health Risk Pathogenic —
RS1238086961 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1238103479 CACNA1E Health Risk Conflicting classifications of pathogenicity —
RS1238109100 CDH3 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1238115346 MUC16 Health Risk Conflicting classifications of pathogenicity MUC16-related disorder, Ovarian cancer
RS1238123416 CERKL Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 26
RS1238126377 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1238128027 IDUA Health Risk Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS1238128692 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS1238131472 SHANK3 Health Risk Pathogenic —
RS1238145717 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1238152597 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1238165628 CNOT3 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with speech delay, autism
RS1238175144 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1238203770 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1238215145 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital myopathy with fiber type disproportion
RS1238227166 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1238231746 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1238248024 HESX1 Health Risk Likely pathogenic Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES
RS1238251797 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1238278691 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS1238287235 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS1238293747 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1238313349 KIAA0586 Health Risk Likely pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS1238314038 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS1238314101 USH2A Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1238325809 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Jeune thoracic dystrophy
RS1238340088 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS1238347256 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS1238348693 IL1RAPL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1238351274 PKD1 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, PKD1-related disorder
RS1238361161 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1238374094 TTN Health Risk Likely pathogenic Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS1238381156 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1238389932 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS1238400476 MUSK Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS1238404973 CYP27B1 Health Risk Likely pathogenic Vitamin D-dependent rickets, type 1A
RS1238412781 GALNT12 Health Risk Conflicting classifications of pathogenicity —
RS1238414767 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
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