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
RS753935209 COL18A1 Health Risk Likely pathogenic Knobloch syndrome, Knobloch syndrome
RS753935319 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS753935388 KIDINS220 Health Risk Conflicting classifications of pathogenicity KIDINS220-related disorder, Inborn genetic diseases
RS753935822 FCHO1 Health Risk Likely pathogenic —
RS753938407 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS753938507 IFT27 Health Risk Conflicting classifications of pathogenicity IFT27-related disorder, Inborn genetic diseases
RS753942596 PDE6A Health Risk Pathogenic Retinitis pigmentosa, Inborn genetic diseases
RS753942853 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS753943393 POLR3B Health Risk Pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Familial cancer of breast
RS753943702 CDKN1B Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4
RS753944130 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS753945261 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome
RS753945728 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS753946523 VAMP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753947354 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, Inborn genetic diseases
RS753947379 MTRR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblE
RS753947676 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS753948138 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, EP300-related disorder
RS753948488 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS753948557 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS753948675 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS753949204 KCNJ1 Health Risk Pathogenic/Likely pathogenic Bartter syndrome, Bartter disease type 2
RS753950471 DDHD2 Health Risk Likely pathogenic Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54
RS753950483 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS753950967 DST Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS753952200 SGCD Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases
RS753952757 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS753953146 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS753953205 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS753953732 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS753954220 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS753954585 CAMTA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753955326 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group G
RS753955773 ROBO4 Health Risk Likely pathogenic —
RS753956374 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS753956513 SLC6A5 Health Risk Conflicting classifications of pathogenicity Hyperekplexia 3, Hyperekplexia 3
RS753956759 DNAJC5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, DNAJC5-related disorder
RS753957126 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS753958013 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS753958204 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS753959620 CAV3 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS753959716 RDH12 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 13, Leber congenital amaurosis
RS753960106 FRAS1 Health Risk Pathogenic —
RS753960624 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS753960738 TRIM32 Health Risk Conflicting classifications of pathogenicity TRIM32-related disorder, Bardet-Biedl syndrome
RS753960777 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS753961140 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753961188 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS753961343 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS753962912 ATP7B Health Risk Pathogenic Wilson disease, Spastic ataxia
RS753964516 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS753965226 GLB1 Health Risk Pathogenic/Likely pathogenic GM1 gangliosidosis type 3, Mucopolysaccharidosis
RS753965584 MTHFD1 Health Risk Pathogenic —
RS753965618 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, Bartter disease type 1
RS753965650 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS753965718 ELANE Health Risk Conflicting classifications of pathogenicity Cyclical neutropenia, Neutropenia
RS753965947 ATP8B1 Health Risk Pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS753965951 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS753966040 OPTN Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 12, Glaucoma 1
RS753966526 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Tip-toe gait
RS753966916 TTN Health Risk Conflicting classifications of pathogenicity —
RS753966933 RAB27A Health Risk Pathogenic/Likely pathogenic Griscelli syndrome type 2, Autoinflammatory syndrome
RS753967999 PHIP Health Risk Conflicting classifications of pathogenicity PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related disorder
RS753968550 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS753968560 NEB Health Risk Conflicting classifications of pathogenicity —
RS753970789 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS753971115 ARSL Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Chondrodysplasia punctata
RS753972711 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS753972832 COL4A6 Health Risk Conflicting classifications of pathogenicity —
RS753973135 EXT2 Health Risk Likely pathogenic Exostoses, multiple
RS753973474 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS753974933 PLCG2 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
RS753975649 ADCY5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753976233 F2 Health Risk Conflicting classifications of pathogenicity Congenital prothrombin deficiency, Thrombophilia due to thrombin defect
RS753977266 HRAS Health Risk Conflicting classifications of pathogenicity Costello syndrome, HRAS-related disorder
RS753977426 MYO5B Health Risk Pathogenic —
RS753978592 FAT4 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS753978859 UGT2B17 Health Risk Conflicting classifications of pathogenicity —
RS753979060 TUBB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753980264 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS753980616 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS753980727 SLC2A2 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS753981900 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS753981913 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS753983449 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS753984036 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS753984170 COL18A1 Health Risk Likely pathogenic Hereditary glaucoma, primary closed-angle
RS753984595 ABCA4 Health Risk Pathogenic —
RS753985914 CDH23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 12
RS75398746 POF1B Health Risk Conflicting classifications of pathogenicity Premature ovarian failure 2B, Premature ovarian insufficiency
RS753989803 ZFYVE19 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS753989899 COL4A1 Health Risk Likely pathogenic Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Hemorrhage
RS753989925 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases
RS75398993 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Kidney disorder
RS753990040 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS753990994 SAG Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Oguchi disease
RS753991568 CHM Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS753993081 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS753993842 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS753993867 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
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