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
RS1897876766 PSEN1 Health Risk Likely pathogenic Alzheimer disease 3, Acne inversa
RS1897878139 PSEN1 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 3, Pick disease
RS189787963 PRKAG2 Health Risk Conflicting classifications of pathogenicity Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6
RS189790119 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1897961716 PSEN1 Health Risk Conflicting classifications of pathogenicity Pick disease, Frontotemporal dementia
RS189796608 CPLANE1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome type 6, Joubert syndrome 17
RS189806840 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS189807102 ZAP70 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
RS189809247 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS1898174031 RXYLT1 Health Risk Pathogenic —
RS189818149 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS189818369 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS189821372 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS189821897 COG4 Health Risk Conflicting classifications of pathogenicity COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation
RS189836527 SYCP2L Health Risk Pathogenic Premature ovarian failure 24, Premature ovarian failure 24
RS1898369371 RXYLT1 Health Risk Pathogenic —
RS1898371402 RXYLT1 Health Risk Pathogenic —
RS189837148 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS1898386320 UQCRC2 Health Risk Pathogenic Mitochondrial complex III deficiency nuclear type 5, Mitochondrial complex III deficiency nuclear type 5
RS189840848 COQ6 Health Risk Pathogenic Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness
RS189841793 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS1898534725 PSEN1 Health Risk Likely pathogenic —
RS189856879 ANKRD26 Health Risk Pathogenic Thrombocytopenia 2, Thrombocytopenia 2
RS189859084 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS189861025 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Somatotroph adenoma
RS1898611246 NPRL3 Health Risk Likely pathogenic Epilepsy, familial focal
RS1898627430 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS1898675878 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS1898686157 NPRL3 Health Risk Pathogenic/Likely pathogenic Epilepsy, familial focal
RS1898687282 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS1898688345 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS189870832 DDR2 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Connective tissue disorder
RS189873733 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1898776259 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Acne inversa
RS1898781850 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Pick disease
RS189880634 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1898806744 NPRL3 Health Risk Likely pathogenic Epilepsy, familial focal
RS1898837245 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS189883848 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal dominant
RS1898841618 NPRL3 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS1898844513 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS1898844907 NPRL3 Health Risk Likely pathogenic Epilepsy, familial focal
RS1898923522 OTOA Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 22
RS189892461 ASAH1 Health Risk Conflicting classifications of pathogenicity Farber lipogranulomatosis, Farber lipogranulomatosis
RS189893797 CLIC5 Health Risk Conflicting classifications of pathogenicity —
RS189895472 TMIE Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 6, Autosomal recessive nonsyndromic hearing loss 6
RS189896732 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS189897002 OTOGL Health Risk Conflicting classifications of pathogenicity OTOGL-related disorder, OTOGL-related disorder
RS189898207 ELOVL4 Health Risk Conflicting classifications of pathogenicity —
RS189900453 MYO1A Health Risk Conflicting classifications of pathogenicity MYO1A-related disorder, MYO1A-related disorder
RS189904739 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS189914793 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS189916631 UNC80 Health Risk Conflicting classifications of pathogenicity Hypotonia, infantile
RS1899167019 NR2F2 Health Risk Pathogenic 46, xx sex reversal 5
RS1899167400 NR2F2 Health Risk Pathogenic/Likely pathogenic 46, xx sex reversal 5
RS1899172049 NR2F2 Health Risk Pathogenic Congenital heart defects, multiple types
RS189923208 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1899234101 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS1899235603 NPRL3 Health Risk Likely pathogenic Epilepsy, familial focal
RS189925781 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Potassium-aggravated myotonia
RS189925962 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS189926848 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS189927028 PCSK1 Health Risk Conflicting classifications of pathogenicity Obesity due to prohormone convertase I deficiency, PCSK1-related disorder
RS189931659 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, GPR179-related disorder
RS1899342578 MEIOB Health Risk Pathogenic Spermatogenic failure 22, Spermatogenic failure 22
RS189947237 OTOG Health Risk Conflicting classifications of pathogenicity —
RS189951108 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS189953160 PROM1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal macular dystrophy type 2
RS189964478 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS189966800 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myopathy
RS189967386 ADGRV1 Health Risk Conflicting classifications of pathogenicity ADGRV1-related disorder, Inborn genetic diseases
RS189968618 WDR87 Health Risk Conflicting classifications of pathogenicity —
RS1899713412 NPRL3 Health Risk Likely pathogenic Epilepsy, familial focal
RS189971831 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS189973137 CFI Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly
RS1899864955 NPRL3 Health Risk Likely pathogenic Epilepsy, familial focal
RS1899868619 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS1899872500 NPRL3 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS189989110 SDHA Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Hereditary pheochromocytoma and paraganglioma
RS189991547 KCNQ1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS189999761 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS190004171 ATAD3C Health Risk Conflicting classifications of pathogenicity —
RS1900052727 PRRT2 Health Risk Pathogenic Seizures, benign familial infantile
RS1900057283 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS190006104 FHL1 Health Risk Conflicting classifications of pathogenicity X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype
RS1900067836 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1900074141 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Inborn genetic diseases
RS190007694 LRPPRC Health Risk Conflicting classifications of pathogenicity Uterine carcinosarcoma, Uterine carcinosarcoma
RS1900077598 PRRT2 Health Risk Likely pathogenic Seizures, benign familial infantile
RS1900085480 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1900088045 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS1900093244 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS190009333 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1900098354 MVP-DT;PRRT2 Health Risk Pathogenic —
RS1900100925 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1900111672 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Seizure
RS190012697 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS1900137777 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Inborn genetic diseases
RS1900139189 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS190014426 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Retinal dystrophy
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