SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS878855078 DNAI2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS878855081 FA2H Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS878855083 FA2H Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS878855086 WT1 Health Risk Conflicting classifications of pathogenicity Frasier syndrome, Wilms tumor 1
RS878855089 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS878855092 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C
RS878855093 GALNT12 Health Risk Conflicting classifications of pathogenicity GALNT12-related disorder, Colorectal cancer
RS878855095 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS878855097 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS878855099 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS878855102 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS878855105 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS878855106 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS878855107 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS878855110 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS878855111 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Inherited breast cancer and ovarian cancer
RS878855113 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS878855118 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS878855122 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS878855123 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS878855126 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS878855133 HNRNPU Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS878855134 BRIP1 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS878855138 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS878855140 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS878855143 BRIP1 Health Risk Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS878855145 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS878855151 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS878855154 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS878855159 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS878855162 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS878855170 GATA2 Health Risk Conflicting classifications of pathogenicity Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome
RS878855177 RAD51C Health Risk Likely pathogenic Fanconi anemia complementation group O, Breast-ovarian cancer
RS878855178 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS878855181 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS878855189 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS878855191 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS878855192 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS878855196 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS878855197 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS878855198 MEN1 Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 1
RS878855212 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS878855213 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS878855214 FLCN Health Risk Pathogenic/Likely pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS878855217 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS878855218 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS878855219 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS878855220 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS878855221 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS878855224 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS878855228 SPRED1 Health Risk Pathogenic/Likely pathogenic Legius syndrome, Legius syndrome
RS878855231 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS878855234 LMNA Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Primary dilated cardiomyopathy
RS878855236 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS878855237 SPAG1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 28, Primary ciliary dyskinesia
RS878855246 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS878855248 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS878855250 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS878855262 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS878855267 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS878855269 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS878855274 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS878855279 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, CCDC39-related disorder
RS878855280 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS878855287 SCN5A Health Risk Pathogenic —
RS878855292 SCN5A Health Risk Pathogenic Cardiovascular phenotype, Brugada syndrome 1
RS878855296 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS878855297 TERT Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS878855299 TERT Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Idiopathic Pulmonary Fibrosis
RS878855300 TERT Health Risk Pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS878855303 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS878855315 ELANE Health Risk Pathogenic/Likely pathogenic Neutropenia, severe congenital
RS878855317 ELANE Health Risk Conflicting classifications of pathogenicity —
RS878855319 ELANE Health Risk Pathogenic Cyclical neutropenia, Neutropenia
RS878855320 ELANE Health Risk Pathogenic Cyclical neutropenia, Neutropenia
RS878855321 ELANE Health Risk Likely pathogenic —
RS878855322 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
RS878855325 UMOD Health Risk Pathogenic Autosomal dominant medullary cystic kidney disease with or without hyperuricemia, Familial juvenile hyperuricemic nephropathy type 1
RS878855326 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS878855327 ANKRD11 Health Risk Pathogenic KBG syndrome, Inborn genetic diseases
RS878855328 MTOR Health Risk Pathogenic Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
RS878855329 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS878855331 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS878855332 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS878855335 GLIS2 Health Risk Pathogenic Nephronophthisis, Nephronophthisis 7
RS878855336 SAMD9L Health Risk Pathogenic Ataxia-pancytopenia syndrome, Monosomy 7 myelodysplasia and leukemia syndrome 1
RS878864531 MYO7A Health Risk Pathogenic Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS878871097 GNAS Health Risk Pathogenic —
RS878874989 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS878883920 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS878891236 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS878892843 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS878893652 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS878896889 CEP290 Health Risk Pathogenic/Likely pathogenic CEP290-related disorder, Bardet-Biedl syndrome 14
RS878898365 PKP2 Health Risk Pathogenic/Likely pathogenic Familial isolated arrhythmogenic right ventricular dysplasia, Cardiovascular phenotype
RS878903172 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS878909737 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS878910680 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS878911532 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS878915517 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
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