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
RS140648594 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS140648896 NR1H4 Health Risk Conflicting classifications of pathogenicity —
RS140649226 SLC34A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS140649374 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, LAMC2-related disorder
RS1406496254 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS140649688 ALDH3A2 Health Risk Conflicting classifications of pathogenicity Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS140649984 POLRMT Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation deficiency 55, POLRMT-related disorder
RS1406512689 ADCY5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140651555 STAMBP Health Risk Conflicting classifications of pathogenicity Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome
RS140651831 PTH1R Health Risk Conflicting classifications of pathogenicity Nonpapillary renal cell carcinoma, Lymphoma
RS140652000 NES Health Risk Conflicting classifications of pathogenicity —
RS1406530488 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS140653372 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS140653587 NRIP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1406541512 SASS6 Health Risk Likely pathogenic Microcephaly 14, primary
RS140654955 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS140655115 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9
RS140655598 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, Dilated cardiomyopathy 1G
RS140655992 JAK3 Health Risk Pathogenic Severe combined immunodeficiency disease, Neoplasm
RS140658201 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS140658743 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS140659948 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, Inborn genetic diseases
RS140660481 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Brugada syndrome
RS140660854 RSPH4A Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 11, Primary ciliary dyskinesia
RS140660860 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1406618487 RAG2 Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS140662138 MYH9 Health Risk Conflicting classifications of pathogenicity Glomerulonephritis, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS140662370 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Inborn genetic diseases
RS140662460 TBCE Health Risk Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome, TBCE-related disorder
RS140663455 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS140663764 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Gastric cancer
RS140664109 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS1406641581 RECQL4 Health Risk Pathogenic/Likely pathogenic Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2
RS140664183 CSF2RA Health Risk Conflicting classifications of pathogenicity Surfactant metabolism dysfunction, pulmonary
RS140664731 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS140664950 MALT1 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency
RS140665115 ATP8B1 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis, Progressive familial intrahepatic cholestasis
RS140665128 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS140665334 ELAC2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 17, ELAC2-related disorder
RS140665587 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1406657630 SMPD4 Health Risk Conflicting classifications of pathogenicity Abnormal cerebral morphology, Neurodevelopmental disorder with microcephaly
RS140665765 RNF13 Health Risk Conflicting classifications of pathogenicity —
RS140666247 GSDME Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 5, Inborn genetic diseases
RS140666774 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS140666848 LRBA Health Risk Conflicting classifications of pathogenicity Hirschsprung disease, susceptibility to
RS1406671449 CTCF Health Risk Likely pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS140667597 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram syndrome 1, Wolfram-like syndrome
RS1406678014 PRG4 Health Risk Pathogenic/Likely pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS140667960 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
RS140669047 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS140670575 TRAP1 Health Risk Conflicting classifications of pathogenicity —
RS140671173 SLC22A12 Health Risk Conflicting classifications of pathogenicity Dalmatian hypouricemia, Dalmatian hypouricemia
RS1406713104 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Inborn genetic diseases
RS1406715863 MPL Health Risk Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS140671840 ABCA4 Health Risk Pathogenic —
RS140672142 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1406722622 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS1406728306 TNFRSF13B Health Risk Pathogenic Immunodeficiency, common variable
RS140672916 TOP2A Health Risk Conflicting classifications of pathogenicity TOP2A-related disorder, Sarcoma
RS1406731723 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS140673211 NSUN2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 5
RS140673312 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS140673461 CPZ Health Risk Conflicting classifications of pathogenicity —
RS140673499 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS140673721 NAGA Health Risk Likely pathogenic Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2
RS140673996 BPTF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1406742141 DCC Health Risk Likely pathogenic DCC-related disorder, DCC-related disorder
RS140674361 MAGEC1 Health Risk Conflicting classifications of pathogenicity —
RS140674740 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS140674901 KIF1A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Neuropathy
RS140675301 STAT4 Health Risk Conflicting classifications of pathogenicity STAT4-related disorder, STAT4-related disorder
RS140675806 ECEL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1406759691 C14orf39 Health Risk Pathogenic Spermatogenic failure 52, Premature ovarian failure 18
RS140676416 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS140676897 BSCL2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Monogenic diabetes
RS140676924 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS140678034 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Inborn genetic diseases
RS140678356 PHEX Health Risk Pathogenic —
RS140678912 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Myofibrillar myopathy 3
RS140679502 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS1406801697 EXT2 Health Risk Pathogenic Exostoses, multiple
RS140680467 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS1406807767 CNOT3 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with speech delay, autism
RS1406807952 NEB Health Risk Pathogenic/Likely pathogenic Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS140681302 RIGI Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140681881 SCNN1A Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism, type IB1
RS140682366 SLC36A2 Health Risk Conflicting classifications of pathogenicity SLC36A2-related disorder, SLC36A2-related disorder
RS140682455 PROM1 Health Risk Conflicting classifications of pathogenicity Retinal macular dystrophy type 2, Cone-rod dystrophy 12
RS1406824963 DICER1 Health Risk Likely pathogenic —
RS140682556 EGF Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, EGF-related disorder
RS1406864413 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS140686447 LIPA Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease
RS1406877044 FBXW7 Health Risk Pathogenic —
RS140687953 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS140688153 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type B
RS140688283 COQ7 Health Risk Conflicting classifications of pathogenicity —
RS1406883950 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140689149 SLC4A11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140689610 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS140690030 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, ABCG8-related disorder
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