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
RS201916031 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS201916371 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS201916449 GNPAT Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS201916514 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201916531 SCN4A Health Risk Conflicting classifications of pathogenicity Paramyotonia congenita of Von Eulenburg, Potassium-aggravated myotonia
RS201916690 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex
RS201916739 CTCF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CTCF-related disorder
RS201916805 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica inversa
RS201916931 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS201917287 GHR Health Risk Conflicting classifications of pathogenicity Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect
RS201917301 PRAMEF2 Health Risk Conflicting classifications of pathogenicity —
RS201917318 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS201917326 NLGN2 Health Risk Conflicting classifications of pathogenicity —
RS201917359 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS201917832 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS201918158 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS201918221 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS201918992 CACNA1B Health Risk Conflicting classifications of pathogenicity —
RS201919311 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Inborn genetic diseases
RS201919331 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS201919395 DNAAF3 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS201919794 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS2019198634 ZNF341 Health Risk Likely pathogenic —
RS201919981 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS201920029 BCAP31 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201920319 THG1L Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia, autosomal recessive 28
RS201920329 PIDD1 Health Risk Conflicting classifications of pathogenicity —
RS201920416 COL1A1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Osteogenesis imperfecta type I
RS201920417 ACTN2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS201920507 COL4A6 Health Risk Conflicting classifications of pathogenicity —
RS201920741 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS201921014 TRIM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2R, Charcot-Marie-Tooth disease type 2R
RS201921029 CC2D1A Health Risk Conflicting classifications of pathogenicity Smith-Magenis Syndrome-like, Inborn genetic diseases
RS201921094 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201921339 IFT172 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS201921350 SEC23B Health Risk Pathogenic Congenital dyserythropoietic anemia, type II
RS201921601 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS201921627 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS201921739 MYBPC1 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, distal
RS201922111 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex
RS201922441 TUBB2B Health Risk Likely pathogenic Inborn genetic diseases, TUBB2B-related disorder
RS201922529 SIX3 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 2, Holoprosencephaly 2
RS201922910 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy
RS201922951 UBR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201922955 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 4
RS201923000 SQSTM1 Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS201923210 KIF15 Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS201923228 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS201923286 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 14, Primary ciliary dyskinesia
RS2019237217 AHDC1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS201924382 NUP93 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS201924445 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder
RS201924732 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases
RS2019248120 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2019250682 AHDC1 Health Risk Likely pathogenic —
RS201925123 GSS Health Risk Pathogenic/Likely pathogenic Inherited glutathione synthetase deficiency, Glutathione synthetase deficiency with 5-oxoprolinuria
RS201925289 SLC6A19 Health Risk Conflicting classifications of pathogenicity Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect
RS201925425 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS201925682 TCN2 Health Risk Conflicting classifications of pathogenicity Transcobalamin II deficiency, Inborn genetic diseases
RS201926213 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS201926457 GALNT12 Health Risk Conflicting classifications of pathogenicity GALNT12-related disorder, GALNT12-related disorder
RS201926772 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS201927115 ARHGAP31 Health Risk Conflicting classifications of pathogenicity ARHGAP31-related disorder, ARHGAP31-related disorder
RS201927283 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases
RS201927375 LMF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS201927653 TERT Health Risk Conflicting classifications of pathogenicity Chronic diarrhea, Immunodeficiency
RS201927813 BUB1B Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS201928231 BACH2 Health Risk Conflicting classifications of pathogenicity —
RS201928401 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS201928951 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal recessive
RS201929144 KIAA0586 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS201929423 EARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, EARS2-related disorder
RS2019294247 TRMT1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS201929666 PCYT1A Health Risk Conflicting classifications of pathogenicity PCYT1A-related disorder, Inborn genetic diseases
RS201929972 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS201929981 DNAAF3 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS201930023 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, UNC13D-related disorder
RS201930322 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Woolly hair-skin fragility syndrome
RS201930377 SLC12A1 Health Risk Likely pathogenic —
RS201930497 TCHH Health Risk Likely pathogenic Uncombable hair syndrome 3, Uncombable hair syndrome 3
RS201930579 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS201930936 DGUOK Health Risk Likely pathogenic —
RS201930958 ERCC6 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1
RS201931182 CCDC88C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201931206 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS201931669 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS201931833 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS201931839 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS201931980 PNPT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2019321826 TRMT1 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 68
RS2019322057 TRMT1 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal recessive 68
RS201932377 DVL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant Robinow syndrome 3
RS201932894 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Hereditary spherocytosis type 3
RS2019335082 AHDC1 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS201933656 PCARE Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS201933663 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Cardiovascular phenotype
RS201933838 MKS1 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 1
RS201934244 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS201934320 HNF1A Health Risk Conflicting classifications of pathogenicity —
RS2019344087 TRMT1 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal recessive 68
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