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
RS774490795 CEP290 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Nephronophthisis
RS774490890 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774491699 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS774492331 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS774492433 STAG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774492992 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS774493427 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS774493547 CUBN Health Risk Pathogenic/Likely pathogenic Imerslund-Grasbeck syndrome type 1, Proteinuria
RS774494441 ANO10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS77449454 ALB Health Risk Pathogenic Analbuminemia, Analbuminemia
RS774494767 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS774495973 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS774496658 WAC Health Risk Pathogenic/Likely pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS774496720 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Inborn genetic diseases
RS774497694 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS774497964 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS774499271 CTNNA3 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13
RS774499986 FAN1 Health Risk Pathogenic/Likely pathogenic Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
RS774501536 HYDIN Health Risk Likely pathogenic —
RS774501542 MSH4 Health Risk Pathogenic Premature ovarian failure 20, Premature ovarian failure 20
RS774502142 PDE6B Health Risk Pathogenic —
RS774502617 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS774503024 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS774505755 FOXE3 Health Risk Likely pathogenic Congenital primary aphakia, Congenital primary aphakia
RS774505771 PLK4 Health Risk Conflicting classifications of pathogenicity PLK4-related disorder, PLK4-related disorder
RS774506115 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS774506265 BAG3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 6
RS774506901 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS774506925 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS774508076 SDHAF2 Health Risk Pathogenic/Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS774508288 PIGO Health Risk Pathogenic/Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia-intellectual disability syndrome
RS774508465 KAT6B Health Risk Likely pathogenic Genitopatellar syndrome, Genitopatellar syndrome
RS774508503 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774508952 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS774509104 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS774509236 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS774509890 TBC1D8B Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 20
RS774510191 ERCC4 Health Risk Pathogenic Cockayne syndrome, Fanconi anemia complementation group Q
RS774511118 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS774511507 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS774511818 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS774512738 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS774513456 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774513748 RARS2 Health Risk Pathogenic —
RS774514148 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Intellectual disability
RS774514264 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS774515390 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 54, Retinitis pigmentosa 54
RS774515747 SLC12A1 Health Risk Pathogenic Bartter disease type 1, Bartter disease type 1
RS774515934 DMXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DMXL2-related disorder
RS774515970 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS774517056 FGFR3 Health Risk Likely pathogenic Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Camptodactyly-tall stature-scoliosis-hearing loss syndrome
RS774517454 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS774517670 SLC26A7 Health Risk Likely pathogenic Congenital hypothyroidism, Congenital hypothyroidism
RS774517902 BUB1 Health Risk Conflicting classifications of pathogenicity —
RS774518440 VRK1 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 1A, Inborn genetic diseases
RS774518779 GJB2 Health Risk Pathogenic 8 conditions, Autosomal recessive nonsyndromic hearing loss 1A
RS774519095 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS774520385 H6PD Health Risk Pathogenic —
RS774520952 MRE11 Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder
RS774521272 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS774521395 PHOX2B Health Risk Conflicting classifications of pathogenicity Haddad syndrome, Hereditary cancer-predisposing syndrome
RS774521989 COL6A2 Health Risk Conflicting classifications of pathogenicity Myopathy, Bethlem myopathy 1A
RS774522197 SCN8A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS774522259 RP1L1 Health Risk Likely pathogenic —
RS774522276 CANT1 Health Risk Pathogenic Desbuquois dysplasia 1, Desbuquois dysplasia 1
RS774522471 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS774522904 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS774523585 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS774524114 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS774524508 TTN Health Risk Conflicting classifications of pathogenicity —
RS774524898 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS774525913 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Malignant tumor of urinary bladder
RS774526017 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS774526181 POLR3B Health Risk Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Leukodystrophy
RS774526353 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS774526596 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS774528518 CTSA Health Risk Likely pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS774528745 PAX3 Health Risk Pathogenic Waardenburg syndrome type 1, Alveolar rhabdomyosarcoma
RS774529051 VPS33B Health Risk Pathogenic —
RS774530073 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Autoinflammatory syndrome
RS774530388 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS774530431 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774530705 SOX11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774530840 OTOF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774531501 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS774532876 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS774533432 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS774533927 LHX3 Health Risk Pathogenic Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities
RS774535097 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS774535114 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774536123 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hyperparathyroidism 1
RS774536190 SLC24A1 Health Risk Pathogenic —
RS774537232 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS774537241 SCN5A Health Risk Pathogenic —
RS774537505 SPTSSA Health Risk Pathogenic Spastic paraplegia 90B, autosomal recessive
RS774537800 TAOK2 Health Risk Conflicting classifications of pathogenicity —
RS774539540 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS774539871 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS774540354 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS774540446 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
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