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
RS147281213 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1472814508 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS147281598 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147282197 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Autism
RS147282497 GFAP Health Risk Conflicting classifications of pathogenicity Alexander disease, Alexander disease
RS147282653 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 13, Diabetes mellitus
RS1472833470 ERCC6 Health Risk Pathogenic —
RS147283674 NDE1 Health Risk Conflicting classifications of pathogenicity Lissencephaly 4, Inborn genetic diseases
RS147283849 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, SERPINA1-related disorder
RS147283850 TUBB3 Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 1, TUBB3-related disorder
RS147284131 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, Hereditary spastic paraplegia
RS147284380 GRHL3 Health Risk Conflicting classifications of pathogenicity Van der Woude syndrome 2, GRHL3-related disorder
RS1472853525 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS147285396 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS147285871 C1QTNF5;MFRP Health Risk Conflicting classifications of pathogenicity Late-onset retinal degeneration, Isolated microphthalmia 5
RS147286030 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS147286334 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS147286623 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS147287202 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS147287428 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Inborn genetic diseases
RS147287751 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1472885040 CERKL Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa
RS147289289 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, MSH3-related disorder
RS1472900688 PARK7 Health Risk Likely pathogenic Young-onset Parkinson disease, Young-onset Parkinson disease
RS147290429 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS147291222 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS1472913919 LZTR1 Health Risk Pathogenic/Likely pathogenic LZTR1-related schwannomatosis, LZTR1-related schwannomatosis
RS1472921765 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS147292597 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Microcephaly
RS147293270 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS147293713 NRIP1 Health Risk Conflicting classifications of pathogenicity NRIP1-related disorder, NRIP1-related disorder
RS147293818 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, CNGA3-related disorder
RS147293964 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS147294240 WDR4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1472943015 DSG3 Health Risk Pathogenic Blistering, acantholytic
RS1472946513 POMT1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS147295026 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS147295042 COG6 Health Risk Conflicting classifications of pathogenicity COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
RS1472951348 TMEM231 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 11
RS1472953017 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS147295930 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS147296490 GUCY2C Health Risk Conflicting classifications of pathogenicity Congenital secretory diarrhea, chloride type
RS147296805 MAPK7 Health Risk Pathogenic Scoliosis, isolated
RS147297895 FAT4 Health Risk Conflicting classifications of pathogenicity FAT4-related disorder, Inborn genetic diseases
RS147298435 EIF2AK3 Health Risk Conflicting classifications of pathogenicity —
RS147298444 PEX7 Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS1472992102 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS147299402 ADNP Health Risk Conflicting classifications of pathogenicity ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS147300317 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS1473006141 SYNE1 Health Risk Pathogenic —
RS147301634 ATP6V0A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal renal tubular acidosis, Inborn genetic diseases
RS147302252 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS147302322 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS147302494 TOPORS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS147303046 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS147303485 TRIP4 Health Risk Pathogenic/Likely pathogenic Spinal muscular atrophy with congenital bone fractures 1, Spinal muscular atrophy with congenital bone fractures 1
RS1473034869 NUP107 Health Risk Pathogenic —
RS147303718 VIPAS39 Health Risk Conflicting classifications of pathogenicity —
RS147304271 USH2A Health Risk Likely pathogenic Retinal dystrophy, Usher syndrome type 2A
RS147304568 MYH3 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
RS147304638 PSPH Health Risk Conflicting classifications of pathogenicity Deficiency of phosphoserine phosphatase, PSPH-related disorder
RS147306123 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS147306562 RBFOX1 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Inborn genetic diseases
RS147306623 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS147307031 FGFR2 Health Risk Conflicting classifications of pathogenicity FGFR2-related craniosynostosis, Isolated Coronal Synostosis
RS147307274 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS147307707 BMS1 Health Risk Conflicting classifications of pathogenicity BMS1-related disorder, BMS1-related disorder
RS147307965 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1473083093 BAG3 Health Risk Likely pathogenic —
RS147309177 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SZT2-related disorder
RS147309575 LPL Health Risk Conflicting classifications of pathogenicity Hyperlipoproteinemia, type I
RS1473111275 ROGDI Health Risk Likely pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS147311433 LRRC8A Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 5, autosomal dominant
RS147311651 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS147311831 COG6 Health Risk Conflicting classifications of pathogenicity COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
RS1473120800 CYP4V2 Health Risk Likely pathogenic —
RS147312456 TECPR2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS1473126291 COQ8A Health Risk Pathogenic COQ8A-related disorder, COQ8A-related disorder
RS147312908 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS1473130799 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS147313415 PCDH15 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147313927 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1473143877 KIF1A Health Risk Pathogenic —
RS147314430 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS1473144775 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiac arrhythmia
RS147314508 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS147314661 BSCL2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS147314754 FAT4 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS1473149290 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS147315245 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS147315419 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS147315735 RRM2B Health Risk Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
RS147315869 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS1473162721 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS147316771 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, Intellectual disability
RS147316959 KCNJ8 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS147317123 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS147317732 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome
RS147317818 TSFM Health Risk Conflicting classifications of pathogenicity Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, TSFM-related disorder
RS147318012 OTOG Health Risk Conflicting classifications of pathogenicity —
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