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
RS769362736 MYH14 Health Risk Conflicting classifications of pathogenicity —
RS769363082 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS769363225 ARMC9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769363556 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS769364566 ABCD4 Health Risk Pathogenic Methylmalonic acidemia with homocystinuria, type cblJ
RS769364943 ASPM Health Risk Pathogenic/Likely pathogenic Microcephaly 5, primary
RS769366055 SZT2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 18
RS769367815 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, 8 conditions
RS769368098 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS769368306 C3 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly
RS769369302 VARS1 Health Risk Likely pathogenic Abnormal brain morphology, Neurodevelopmental disorder with microcephaly
RS769369764 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS769370108 OCA2 Health Risk Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS769370282 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS769370816 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS769371398 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS769373772 HPDL Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Spastic paraplegia
RS769374125 TTC5 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
RS769374744 EXOSC3 Health Risk Likely pathogenic Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 1B
RS769375482 ACTN1 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 15, Platelet-type bleeding disorder 15
RS769375583 RAG1 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS769376680 LGI3 Health Risk Pathogenic Peripheral nerve hyperexcitability syndrome, Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects
RS769377092 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS769377709 LOXHD1 Health Risk Conflicting classifications of pathogenicity —
RS769377982 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS769378200 MAGEL2 Health Risk Conflicting classifications of pathogenicity MAGEL2-related disorder, Schaaf-Yang syndrome
RS769378511 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS769378726 QARS1 Health Risk Conflicting classifications of pathogenicity Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS769378741 UROD Health Risk Pathogenic/Likely pathogenic Familial porphyria cutanea tarda, UROD-related disorder
RS769379523 FRAS1 Health Risk Pathogenic —
RS769379537 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS769379928 PUS7 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with abnormal behavior, microcephaly
RS769380445 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS769381358 LAMB1 Health Risk Pathogenic —
RS769381688 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS769383291 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS769383881 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS769384124 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia, Cardiomyopathy
RS769385276 MMAB Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
RS769385715 HS6ST2 Health Risk Conflicting classifications of pathogenicity —
RS769386190 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS769386611 NHSL2;RTL5 Health Risk Conflicting classifications of pathogenicity —
RS769386722 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS769388036 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS769389263 DMD Health Risk Likely pathogenic —
RS769389600 LAS1L Health Risk Conflicting classifications of pathogenicity —
RS769389702 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS769390195 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement
RS769390522 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769391232 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS769391314 XYLT1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS769391647 LTBP3 Health Risk Conflicting classifications of pathogenicity Brachyolmia-amelogenesis imperfecta syndrome, Inborn genetic diseases
RS769391875 POLR3A Health Risk Pathogenic Leukodystrophy, Leukodystrophy
RS769391944 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS769392747 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS769393894 PLCG2 Health Risk Likely pathogenic —
RS769395943 HK1 Health Risk Conflicting classifications of pathogenicity Hemolytic anemia due to hexokinase deficiency, Hemolytic anemia due to hexokinase deficiency
RS769397639 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS769397647 SLC19A2 Health Risk Conflicting classifications of pathogenicity Megaloblastic anemia, thiamine-responsive
RS769397725 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS769398456 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS769398465 UMOD Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 1, Inborn genetic diseases
RS769399002 LAMB2 Health Risk Pathogenic LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS769399113 SLC25A19 Health Risk Conflicting classifications of pathogenicity Amish lethal microcephaly, Progressive demyelinating neuropathy with bilateral striatal necrosis
RS769399334 LETM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769399615 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS769399833 AICDA Health Risk Pathogenic/Likely pathogenic Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
RS769399952 SCN10A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS769400504 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS769403251 TPSB2 Health Risk Conflicting classifications of pathogenicity —
RS769403473 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS769404377 ABCA13 Health Risk Conflicting classifications of pathogenicity —
RS769404975 PERP Health Risk Pathogenic Erythrokeratodermia variabilis et progressiva 7, Erythrokeratodermia variabilis et progressiva 7
RS769405222 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS769405342 ABL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769405586 ABCC6 Health Risk Pathogenic/Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS769405747 HPS4 Health Risk Pathogenic —
RS769405762 MYL4 Health Risk Likely pathogenic Atrial fibrillation, familial
RS769406687 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS769407533 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS769407804 FREM1 Health Risk Pathogenic Oculotrichoanal syndrome, Inborn genetic diseases
RS769408559 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS769409112 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS769409347 ORC4 Health Risk Conflicting classifications of pathogenicity ORC4-related disorder, ORC4-related disorder
RS769409705 SLC34A1 Health Risk Pathogenic Hypercalcemia, infantile
RS769410130 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS769410348 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS769411080 ALDH5A1 Health Risk Pathogenic/Likely pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS769411694 VPS13C Health Risk Likely pathogenic Young-onset Parkinson disease, VPS13C-related disorder
RS769412145 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS769412873 MED25 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS769414 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS769414205 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS769414440 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS769414976 CEP63 Health Risk Likely pathogenic —
RS769415024 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS769416 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS769417336 TULP1 Health Risk Conflicting classifications of pathogenicity —
RS769417807 ATP6V0A4 Health Risk Pathogenic Renal tubular acidosis, distal
RS769417998 NT5C2 Health Risk Pathogenic Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45
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