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
RS1275496281 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1275500780 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS1275507780 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1275511136 LZTR1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 2, LZTR1-related schwannomatosis
RS1275520648 NBEA Health Risk Pathogenic Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy
RS1275572421 CYP1B1 Health Risk Likely pathogenic Congenital glaucoma, Congenital glaucoma
RS1275607339 TNFRSF1A Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, TNF receptor-associated periodic fever syndrome (TRAPS)
RS1275613358 MOCS1 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS1275614219 CLN6 Health Risk Likely pathogenic Ceroid lipofuscinosis, neuronal
RS1275616370 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group I
RS1275616940 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1275657359 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1275662909 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS1275663379 PDZD7 Health Risk Pathogenic —
RS1275667662 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1275677869 FBXO7 Health Risk Pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS1275683627 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS1275684003 LTBP3 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS1275684568 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1275702908 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1275707003 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS1275708479 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS1275708646 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1275710645 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS1275718084 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1275755910 CDKN1B Health Risk Likely pathogenic Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4
RS1275767178 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1275784384 EGFR Health Risk Pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS1275798438 GSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1275805852 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS1275818409 GFM1 Health Risk Likely pathogenic —
RS1275822594 PEX1 Health Risk Pathogenic/Likely pathogenic Zellweger spectrum disorders, Heimler syndrome 1
RS1275835656 RFXAP Health Risk Pathogenic —
RS1275842849 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS1275844963 DDX3X Health Risk Pathogenic —
RS1275851235 OTOA Health Risk Pathogenic —
RS1275855734 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1275858718 SCN8A Health Risk Conflicting classifications of pathogenicity See cases, Early-infantile DEE
RS1275864234 COX6A2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 18
RS1275867494 MRE11 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1275876003 ACAN Health Risk Pathogenic —
RS1275882210 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1275890918 SCN1A Health Risk Pathogenic —
RS1275901105 GJB2 Health Risk Conflicting classifications of pathogenicity —
RS1275901345 ADSL Health Risk Likely pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS1275929525 EXT1 Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Chondrosarcoma
RS1275950312 RAI1 Health Risk Likely pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS1275955653 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS1275959058 ZNF142 Health Risk Likely pathogenic Neurodevelopmental disorder with impaired speech and hyperkinetic movements, Neurodevelopmental disorder with impaired speech and hyperkinetic movements
RS1275961745 FANCF Health Risk Pathogenic Fanconi anemia complementation group F, Fanconi anemia
RS1275961783 CACNA1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Episodic ataxia type 2
RS1275962600 MFSD8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1275965097 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1275973309 ALS2 Health Risk Pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS1275999923 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1276023381 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, ZEB2-related disorder
RS1276026682 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1276088946 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group G
RS1276093487 DDC Health Risk Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS1276100299 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, 8 conditions
RS1276140261 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1276147010 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1276159036 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS1276164380 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS1276168825 GNE Health Risk Pathogenic Sialuria, GNE myopathy
RS1276205801 B3GALNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS1276255111 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1276291921 SRCAP Health Risk Conflicting classifications of pathogenicity —
RS1276296360 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS1276296733 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1276298140 WDR35 Health Risk Likely pathogenic WDR35-related disorder, WDR35-related disorder
RS1276300668 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1276300681 AHDC1 Health Risk Conflicting classifications of pathogenicity —
RS1276312596 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1276320689 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS1276338018 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1276354912 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1276364757 PCARE Health Risk Pathogenic —
RS1276377271 CRB2 Health Risk Pathogenic —
RS1276378675 KCNB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1276387170 FGFR2 Health Risk Conflicting classifications of pathogenicity Craniosynostosis syndrome, Saethre-Chotzen syndrome
RS1276388879 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS1276391947 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1276397342 HSD17B4 Health Risk Pathogenic/Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS1276436237 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases
RS1276484671 NAGLU Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS1276503562 PTCH1 Health Risk Likely pathogenic —
RS1276510932 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1276512455 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1276519904 H3-3A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Bryant-Li-Bhoj neurodevelopmental syndrome 1
RS1276523236 SZT2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 18
RS1276524614 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1276536384 SKIC2 Health Risk Pathogenic —
RS1276584787 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1276594505 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Inborn genetic diseases
RS1276597208 CERKL Health Risk Likely pathogenic Retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS1276606764 SKIC2 Health Risk Conflicting classifications of pathogenicity Hepatocellular carcinoma, Hepatocellular carcinoma
RS1276607391 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS1276616440 ELAC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Combined oxidative phosphorylation defect type 17
RS1276619198 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
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