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
RS146787666 NEK9 Health Risk Conflicting classifications of pathogenicity NEK9-related disorder, NEK9-related lethal skeletal dysplasia
RS1467887809 CASR Health Risk Pathogenic/Likely pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS146789107 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS146789395 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS146789444 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS1467901142 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS1467902610 HMGCL Health Risk Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS1467916973 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS146792192 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Inborn genetic diseases
RS1467929364 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS146793133 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS146793368 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS146793500 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS146793976 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Clear cell carcinoma of kidney
RS1467939954 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS146794392 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Amelogenesis imperfecta type 1A
RS146795390 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Lung cancer
RS146795445 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS146795505 ORC6 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 3, ORC6-related disorder
RS146795664 CD19 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS1467957839 ARSG Health Risk Pathogenic —
RS146795869 F7 Health Risk Pathogenic Factor VII deficiency, Factor VII deficiency
RS1467959226 MMUT Health Risk Likely pathogenic —
RS146796009 PCDH15 Health Risk Conflicting classifications of pathogenicity —
RS146796158 IQCB1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Inborn genetic diseases
RS146796765 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1467976097 COL18A1 Health Risk Pathogenic Knobloch syndrome, Knobloch syndrome
RS1467982801 AHDC1 Health Risk Conflicting classifications of pathogenicity —
RS146798599 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS146799286 CAVIN1 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 4, Monogenic diabetes
RS1468003457 IFNAR2 Health Risk Likely pathogenic Immunodeficiency 45, Immunodeficiency 45
RS146800850 GLE1 Health Risk Conflicting classifications of pathogenicity Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal congenital contracture syndrome 1
RS146800889 TRPM3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146801036 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS1468013577 SLC6A5 Health Risk Pathogenic Hyperekplexia 3, Hyperekplexia 3
RS1468013861 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS1468014859 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS146801512 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Sitosterolemia 1
RS146801942 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1468020473 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1468020897 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS146802593 SLC45A2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Oculocutaneous albinism type 4
RS146803767 CD46 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, CD46-related disorder
RS1468041471 TYR Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism, Oculocutaneous albinism type 1A
RS1468041544 AIPL1 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis 4
RS146804928 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS1468055437 LYST Health Risk Pathogenic Abnormal bleeding, Thrombocytopenia
RS1468065357 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1468072346 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS146807421 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Ehlers-Danlos syndrome
RS146807481 FARSB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146808726 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS1468099690 XPA Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS146810022 P4HB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1468102052 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS146810389 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS1468108124 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS1468108940 ZNF469 Health Risk Conflicting classifications of pathogenicity —
RS146810942 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS146812695 DVL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146812823 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS1468139751 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS146814571 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS146814641 PIBF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Joubert syndrome 33
RS146815072 SLC7A9 Health Risk Pathogenic Cystinuria, Cystinuria
RS146816221 FAR1 Health Risk Conflicting classifications of pathogenicity FAR1-related disorder, FAR1-related disorder
RS146816269 POGZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146816935 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS146817002 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS1468175087 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS146818399 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Inborn genetic diseases
RS146818694 FXN Health Risk Pathogenic Friedreich ataxia 1, Friedreich ataxia 1
RS1468188619 COL17A1 Health Risk Likely pathogenic —
RS146819206 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS146819341 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1468206811 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS146820856 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS1468211891 ERCC5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS146822426 SEMA4A Health Risk Conflicting classifications of pathogenicity Colorectal cancer, Cone-rod dystrophy 10
RS146822562 LAMA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1468228702 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1468230389 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS1468231556 ERCC8 Health Risk Pathogenic Cockayne syndrome type 1, UV-sensitive syndrome 2
RS1468240932 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1468242174 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1468257550 LOXHD1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1468269366 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS146827257 LHX3 Health Risk Conflicting classifications of pathogenicity —
RS1468272829 CNGB1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa
RS1468284861 DONSON Health Risk Pathogenic —
RS1468285336 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1468286638 TBC1D24 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS146828735 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1468290898 TRDN Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS146829316 TBX4 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS146829332 EVC Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS146829385 AHCY Health Risk Conflicting classifications of pathogenicity Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
RS146830505 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Inborn genetic diseases
RS146831211 CTDP1 Health Risk Conflicting classifications of pathogenicity CTDP1-related disorder, CTDP1-related disorder
RS1468313242 CEBPA Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
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