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
RS769127057 CPLANE1 Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS769127095 OFD1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome I, Joubert syndrome
RS769128606 LRP5 Health Risk Conflicting classifications of pathogenicity —
RS769130391 HSPG2 Health Risk Likely pathogenic Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS769131046 TBCD Health Risk Pathogenic —
RS769131892 NPAT Health Risk Conflicting classifications of pathogenicity —
RS769133364 GTPBP3 Health Risk Pathogenic —
RS769134583 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS769134865 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS769135961 MLC1 Health Risk Pathogenic/Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS769137843 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS769137869 WDR62 Health Risk Likely pathogenic Microcephaly 2, primary
RS769137963 PEX7 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1
RS769138971 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal recessive Alport syndrome
RS769139609 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS769139957 ALPK3 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Cardiovascular phenotype
RS769140062 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, Inborn genetic diseases
RS769140907 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases
RS76914224 MVK Health Risk Conflicting classifications of pathogenicity Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS769142295 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS769142993 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS769143199 NPHP1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS769144119 NHLRC1 Health Risk Likely pathogenic Lafora disease, Lafora disease
RS769145218 USH2A Health Risk Likely pathogenic —
RS769145449 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS769145486 DCTN1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS769145488 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Prostate cancer
RS769146546 ERCC2 Health Risk Likely pathogenic Trichothiodystrophy, Trichothiodystrophy
RS769146715 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS769147552 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS769147604 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS769147926 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS769148365 ADAR Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Aicardi-Goutieres syndrome 6
RS769151199 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS769151434 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS769151482 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS769151797 CBL Health Risk Conflicting classifications of pathogenicity CBL-related disorder, Juvenile myelomonocytic leukemia
RS769152039 HOXA1 Health Risk Pathogenic Bosley-Salih-Alorainy syndrome, Human HOXA1 syndromes
RS769152137 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS769152217 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS769152395 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS769152755 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS769153428 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS769154205 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS769154907 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS769156315 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
RS769156393 RP1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS769158507 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS769158560 COL1A1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Osteogenesis imperfecta type I
RS769160407 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS769160647 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Benign neonatal seizures
RS769161426 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS769161471 OTOG Health Risk Likely pathogenic —
RS769162779 NEFH Health Risk Conflicting classifications of pathogenicity —
RS769163040 TTN Health Risk Conflicting classifications of pathogenicity —
RS769163259 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS769163639 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS769163891 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS769163950 CLCNKB Health Risk Likely pathogenic Bartter disease type 3, Bartter disease type 4B
RS769164245 ATP6V0A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive distal renal tubular acidosis, Renal tubular acidosis
RS769164317 PRMT9 Health Risk Pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS769165258 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS769165584 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS769166447 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS769167857 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS769167992 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS769169485 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS769170686 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS769171020 PROP1 Health Risk Conflicting classifications of pathogenicity Combined pituitary hormone deficiencies, genetic form
RS769172044 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS76917243 ALDOB Health Risk Pathogenic Hereditary fructosuria, Inborn genetic diseases
RS769173039 NPRL3 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS769173275 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Type 2 collagenopathy
RS769173788 KMT2D Health Risk Conflicting classifications of pathogenicity KMT2D-related disorder, Kabuki syndrome
RS769174266 LAMA1 Health Risk Conflicting classifications of pathogenicity Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Glioma susceptibility 1
RS769174542 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS769176363 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS769177104 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS769177492 DNM1L Health Risk Conflicting classifications of pathogenicity —
RS769177784 DNAI1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, See cases
RS769178123 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS769178148 NR4A2 Health Risk Likely pathogenic Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
RS769178368 MCM3AP Health Risk Pathogenic —
RS769179933 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS769180471 PTH1R Health Risk Likely pathogenic Primary failure of tooth eruption, Metaphyseal chondrodysplasia
RS769180655 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, WDPCP-related disorder
RS769180834 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS769181075 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS769181927 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS769182078 MTMR14 Health Risk Conflicting classifications of pathogenicity —
RS769182426 ACTB Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS769183050 ACSF3 Health Risk Pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS769183311 POP1 Health Risk Pathogenic Anauxetic dysplasia 2, Anauxetic dysplasia 2
RS769184675 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Bloom syndrome
RS769187207 SLC25A19 Health Risk Pathogenic Progressive demyelinating neuropathy with bilateral striatal necrosis, Progressive demyelinating neuropathy with bilateral striatal necrosis
RS769187343 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS769187963 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS769188151 SPTLC1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 1, Neuropathy
RS769188557 CYP17A1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Congenital adrenal hyperplasia
RS769189017 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MYO15A-related disorder
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