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
RS148222991 RHO Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 1, Retinitis pigmentosa
RS1482234746 NEK1 Health Risk Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS1482235107 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS148223897 CLDN14 Health Risk Conflicting classifications of pathogenicity Vein of Galen aneurysmal malformation, Vein of Galen aneurysmal malformation
RS148224708 RREB1 Health Risk Conflicting classifications of pathogenicity —
RS1482248002 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1482249008 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS1482249689 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, SETD2-related disorder
RS148225182 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Connective tissue disorder
RS148225281 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome, HPS1-related disorder
RS148225341 HERC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148225763 LAMA1 Health Risk Conflicting classifications of pathogenicity Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, LAMA1-related disorder
RS148226356 KCNQ5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148226418 TGM5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148226583 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS148227849 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
RS1482284498 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS148228793 ANKH Health Risk Conflicting classifications of pathogenicity ANKH-related disorder, ANKH-related disorder
RS148228876 OPA3 Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS148229804 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, WRN-related disorder
RS148230131 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Nephronophthisis 8, Meckel syndrome
RS1482303814 CPLANE1 Health Risk Likely pathogenic Joubert syndrome 17, Joubert syndrome 17
RS148230565 CHST11 Health Risk Conflicting classifications of pathogenicity CHST11-related disorder, CHST11-related disorder
RS1482306571 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1482314855 CABP4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS148232621 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS148233007 CYP1B1 Health Risk Pathogenic/Likely pathogenic Glaucoma 3A, Primary congenital glaucoma
RS148234178 ABCA4 Health Risk Pathogenic ABCA4-related retinopathy, Retinitis pigmentosa
RS148234280 TWNK Health Risk Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia, Sensory ataxic neuropathy
RS148234507 LAMA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148234606 SLC52A2 Health Risk Pathogenic Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases
RS148235227 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Inborn genetic diseases
RS1482353724 ANO10 Health Risk Pathogenic —
RS1482355069 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS148235578 JARID2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1482361634 SRD5A3 Health Risk Pathogenic SRD5A3-congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation
RS1482364471 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS148237075 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS148237222 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases
RS148237260 ROR2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Robinow syndrome, Brachydactyly type B1
RS1482373824 ABCG5 Health Risk Likely pathogenic Sitosterolemia 2, Sitosterolemia 2
RS148237800 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome
RS148238282 DNAI1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Kartagener syndrome
RS148239625 CAVIN1 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 4, Monogenic diabetes
RS148239801 CTU2 Health Risk Conflicting classifications of pathogenicity CTU2-related disorder, CTU2-related disorder
RS148239804 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, CTNNA1-related disorder
RS148239915 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS148240167 MCOLN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mucolipidosis type IV
RS148240226 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases
RS148240352 MAGI2 Health Risk Conflicting classifications of pathogenicity MAGI2-related disorder, MAGI2-related disorder
RS1482404545 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS148240825 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1482410266 PTPN11 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS148241794 ACACB Health Risk Conflicting classifications of pathogenicity ACACB-related disorder, ACACB-related disorder
RS148241854 L2HGDH Health Risk Conflicting classifications of pathogenicity L-2-hydroxyglutaric aciduria, Inborn genetic diseases
RS148242593 PROM1 Health Risk Conflicting classifications of pathogenicity Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS1482427203 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS1482428150 OTOGL Health Risk Pathogenic —
RS148243411 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Inborn genetic diseases
RS148244033 LHCGR Health Risk Conflicting classifications of pathogenicity Gonadotropin-independent familial sexual precocity, Leydig cell agenesis
RS1482440395 ENG Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS148244041 USP8 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Autosomal recessive spastic paraplegia type 59
RS1482442290 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia
RS1482444015 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS148244525 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1482450152 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS148245202 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS148246325 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1482471100 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS148247227 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 66, Retinitis pigmentosa
RS1482475314 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS1482483082 CDKN2A Health Risk Pathogenic Gastric cancer, Gastric cancer
RS1482487617 USH1C Health Risk Likely pathogenic Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS148248777 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS148248971 TYRP1 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 3, Oculocutaneous albinism type 3
RS148249231 FREM2 Health Risk Pathogenic —
RS1482497533 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1482498887 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS148249892 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS148250597 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS1482514446 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS148252611 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS148253245 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS1482532650 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS1482536453 CHD3 Health Risk Likely pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS1482559118 LIFR Health Risk Pathogenic —
RS1482563973 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS148257120 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1482573368 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS148260187 STEAP3 Health Risk Conflicting classifications of pathogenicity —
RS148260275 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1482605370 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS1482608926 DGKE Health Risk Likely pathogenic Immunoglobulin-mediated membranoproliferative glomerulonephritis, Immunoglobulin-mediated membranoproliferative glomerulonephritis
RS1482609511 ACADS Health Risk Pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS1482613248 KMT2B Health Risk Conflicting classifications of pathogenicity Dystonia 28, childhood-onset
RS148261539 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS1482618215 PROM1 Health Risk Pathogenic Retinitis pigmentosa 41, Retinitis pigmentosa 41
RS148262058 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS1482623513 CEP250 Health Risk Likely pathogenic —
RS1482624366 NPHP1 Health Risk Likely pathogenic Joubert syndrome with renal defect, Joubert syndrome with renal defect
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