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
RS148263031 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS1482630982 SLC25A13 Health Risk Pathogenic/Likely pathogenic Citrin deficiency, Citrullinemia
RS1482631076 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1482631297 SLC4A11 Health Risk Pathogenic Congenital hereditary endothelial dystrophy of cornea, Corneal dystrophy-perceptive deafness syndrome
RS1482632936 ETFDH Health Risk Likely pathogenic Glutaric acidemia iic, late-onset
RS148263424 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148263562 LGI1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant epilepsy with auditory features, Inborn genetic diseases
RS148264086 C2CD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Joubert syndrome
RS1482641121 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS148264146 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS1482654951 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1482655499 PDZD7 Health Risk Pathogenic —
RS1482664387 ERCC8 Health Risk Likely pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS148266527 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS148267537 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1482684558 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS1482685317 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Familial melanoma
RS1482696609 VRK1 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS148269839 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS148270248 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1482703790 PKLR Health Risk Likely pathogenic —
RS1482709090 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1482717760 CEP164 Health Risk Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS1482718750 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS148272407 FBXO7 Health Risk Conflicting classifications of pathogenicity Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS1482734025 COL9A1 Health Risk Pathogenic COL9A1-related disorder, COL9A1-related disorder
RS148275050 RNF168 Health Risk Pathogenic/Likely pathogenic RIDDLE syndrome, RIDDLE syndrome
RS148275069 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS148275181 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS148275217 CCDC141 Health Risk Conflicting classifications of pathogenicity —
RS148275498 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS148275567 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS1482760341 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, SOD1-related disorder
RS148276213 FAM20C Health Risk Conflicting classifications of pathogenicity Lethal osteosclerotic bone dysplasia, Hypophosphataemia or rickets
RS1482767334 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1482772814 EFNB1 Health Risk Likely pathogenic EFNB1-related disorder, EFNB1-related disorder
RS148278887 BCS1L Health Risk Conflicting classifications of pathogenicity BCS1L-related disorder, Mitochondrial complex III deficiency nuclear type 1
RS148279875 ABCB4 Health Risk Pathogenic ABCB4-related disorder, ABCB4-related disorder
RS148280386 PRKACA Health Risk Pathogenic/Likely pathogenic Cardioacrofacial dysplasia 1, Cardioacrofacial dysplasia 1
RS148281272 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1482828043 COL7A1 Health Risk Pathogenic —
RS1482829698 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 3
RS148284341 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1482844053 ALOX12B Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS1482845179 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS148284531 GCNT2 Health Risk Pathogenic/Likely pathogenic Cataract 13 with adult I phenotype, Cataract 13 with adult I phenotype
RS148284868 DNAJC17 Health Risk Conflicting classifications of pathogenicity —
RS148285323 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS148286091 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS148286133 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome
RS148286708 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, WRN-related disorder
RS1482868696 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS148287063 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS148287864 DOCK7 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 23
RS148288567 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS148288583 RAG1 Health Risk Conflicting classifications of pathogenicity Histiocytic medullary reticulosis, Severe combined immunodeficiency
RS1482906647 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS148291350 C1QTNF5;MFRP Health Risk Conflicting classifications of pathogenicity Late-onset retinal degeneration, Isolated microphthalmia 5
RS148291843 SLC39A13 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylocheirodysplastic type
RS148291967 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS148292941 PPOX Health Risk Pathogenic Abnormal blistering of the skin, Constipation
RS148293496 FAT4 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS148293687 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS148293985 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS148294838 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS148295935 ERCC6 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1
RS148296108 RP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS148296743 PEX13 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS148296798 GYG2 Health Risk Conflicting classifications of pathogenicity —
RS148297332 SACS Health Risk Pathogenic —
RS1482973840 FANCL Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group L
RS1482983792 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1482985217 SOX10 Health Risk Pathogenic Waardenburg syndrome type 2E, Waardenburg syndrome type 4C
RS148298609 CFB Health Risk Conflicting classifications of pathogenicity Complement factor b deficiency, Atypical hemolytic-uremic syndrome with B factor anomaly
RS148298842 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS148299415 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS1482995062 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1482996862 CHST6 Health Risk Conflicting classifications of pathogenicity Macular corneal dystrophy, Macular corneal dystrophy
RS1483000577 MYH3 Health Risk Likely pathogenic MYH3-related disorder, MYH3-related disorder
RS1483000682 DNAH1 Health Risk Likely pathogenic Ciliary dyskinesia, primary
RS1483001216 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS148300854 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1483017438 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS148302095 ENTPD7;COX15 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Leigh syndrome
RS1483025723 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1483028018 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS148302981 BCS1L Health Risk Conflicting classifications of pathogenicity GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
RS1483039185 SDHC Health Risk Pathogenic/Likely pathogenic Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS148304849 CDON Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 11, Intellectual disability
RS1483048912 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS148305100 NDUFAF5 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS1483052638 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS148306701 GLIS3 Health Risk Conflicting classifications of pathogenicity —
RS148307285 CSF3R Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Inborn genetic diseases
RS148307737 HFE Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 1, Hemochromatosis type 1
RS1483082477 DNAH1 Health Risk Likely pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS1483085748 RECQL4 Health Risk Pathogenic/Likely pathogenic Malignant fibrous histiocytoma, Baller-Gerold syndrome
RS148308964 TCF4 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1483102315 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS148310342 MYL3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
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