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
RS1823350857 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Exostoses
RS1823350888 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1823351882 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1823352107 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1823352329 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1823353089 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1823353269 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Exostoses
RS1823354043 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1823400914 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS182340196 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS182345461 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1823455124 TONSL Health Risk Likely pathogenic Skeletal dysplaisia with extra-skeletal manifestations, Skeletal dysplaisia with extra-skeletal manifestations
RS182345541 LHX3 Health Risk Conflicting classifications of pathogenicity LHX3-related disorder, Non-acquired combined pituitary hormone deficiency with spine abnormalities
RS1823456874 CNGB3 Health Risk Likely pathogenic —
RS182347573 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Hearing impairment
RS182347753 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS182347943 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS182349376 MTNR1B Health Risk risk factor Diabetes mellitus type 2, susceptibility to
RS182349583 KCNJ11 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS182351748 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
RS182352457 LOC105375751 Health Risk association Familial prostate cancer, Familial prostate cancer
RS182355403 TACO1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS1823561323 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5C, with pyloric atresia
RS1823578716 VPS13A Health Risk Pathogenic —
RS182359666 B4GALT1 Health Risk Conflicting classifications of pathogenicity —
RS182360785 WDR35 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS1823615821 RMRP Health Risk Pathogenic Anauxetic dysplasia 1, Anauxetic dysplasia 1
RS182362312 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1823629969 RMRP Health Risk Likely pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1823630124 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1823630945 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1823632816 RMRP Health Risk Conflicting classifications of pathogenicity Anauxetic dysplasia, Metaphyseal chondrodysplasia
RS1823634410 RMRP Health Risk Pathogenic/Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1823636018 RMRP Health Risk Likely pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1823637418 RMRP Health Risk Likely pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1823637491 RMRP Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1823637565 RMRP Health Risk Pathogenic/Likely pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia
RS1823637651 RMRP Health Risk Pathogenic/Likely pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia
RS1823637755 RMRP Health Risk Likely pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1823638217 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1823638952 RMRP Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1823639598 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1823639713 RMRP Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1823640030 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1823640657 RMRP Health Risk Likely pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia
RS1823641711 RMRP Health Risk Likely pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1823643256 RMRP Health Risk Likely pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1823644118 RMRP Health Risk Likely pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1823647798 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1823648167 RMRP Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS182367234 CEP152 Health Risk Conflicting classifications of pathogenicity Seckel syndrome 5, Microcephaly 9
RS1823678428 GRHPR Health Risk Pathogenic —
RS182369056 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 6
RS182369459 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 5, Joubert syndrome
RS182371422 SLC1A3 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 6, Episodic ataxia type 6
RS182372139 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS1823729558 PLEC Health Risk Likely pathogenic —
RS182373336 BMP4 Health Risk Conflicting classifications of pathogenicity Microphthalmia with brain and digit anomalies, Orofacial cleft 11
RS182373896 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS1823748085 TONSL Health Risk Likely pathogenic —
RS1823752421 CNGB3 Health Risk Pathogenic —
RS1823755123 CNGB3 Health Risk Pathogenic —
RS182376945 CALR3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 19, Hypertrophic cardiomyopathy 19
RS1823778696 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1823779468 CNGB3 Health Risk Pathogenic —
RS182378192 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS1823827684 TONSL Health Risk Likely pathogenic —
RS1823830929 TONSL Health Risk Likely pathogenic —
RS182383995 GLRA1 Health Risk Likely pathogenic Hereditary hyperekplexia, Hereditary hyperekplexia
RS1823849258 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS182385524 RAG1 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS1823881286 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS182391687 GAN Health Risk Conflicting classifications of pathogenicity Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS182395524 ADGRV1 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS1823961696 KAT6A Health Risk Pathogenic —
RS1823997308 NTRK2 Health Risk Conflicting classifications of pathogenicity Obesity, hyperphagia
RS182402358 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS1824069966 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex, Epidermolysis bullosa simplex
RS182411153 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia
RS182413311 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1824166369 RORB Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1824167579 RORB Health Risk Likely pathogenic —
RS1824180998 SLC26A5 Health Risk Pathogenic —
RS182422055 TTN Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1824238311 DST Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS1824250656 RORB Health Risk Likely pathogenic Epilepsy, idiopathic generalized
RS1824270859 VPS13A Health Risk Pathogenic —
RS182428124 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS182430449 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS182435130 FBLN5 Health Risk Conflicting classifications of pathogenicity Macular degeneration, age-related
RS182439983 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity Cutis laxa with osteodystrophy, ALG9 congenital disorder of glycosylation
RS182440627 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS182441753 FASTKD2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS1824437755 TG Health Risk Pathogenic —
RS1824446213 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1824451856 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS182445355 SMC3 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 3, Inborn genetic diseases
RS182445366 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS182449286 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS182450244 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
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