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
RS1675625092 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1675665426 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1675671187 CDC73 Health Risk Pathogenic —
RS1675682743 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1675685953 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1675708936 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1675709881 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1675711858 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1675739925 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1675812434 PREPL Health Risk Pathogenic Myasthenic syndrome, congenital
RS1675833748 LYST Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Chédiak-Higashi syndrome
RS1675912024 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Parathyroid carcinoma
RS1675915231 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS1675993398 FOXI3 Health Risk Likely pathogenic Craniofacial microsomia 2, Craniofacial microsomia 1
RS1676028774 CAD Health Risk Pathogenic —
RS1676033729 CAD Health Risk Likely pathogenic —
RS1676113645 CAD Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 50
RS1676117112 CAD Health Risk Likely pathogenic —
RS1676130958 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS1676202186 BCL11A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1676223605 LOC112806037;MERTK Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1676249686 CAD Health Risk Pathogenic Developmental and epileptic encephalopathy, 50
RS1676269150 BCL11A Health Risk Likely pathogenic —
RS1676277997 BCL11A Health Risk Conflicting classifications of pathogenicity Developmental disorder, Inborn genetic diseases
RS1676285984 CAD Health Risk Pathogenic —
RS1676294288 CAD Health Risk Pathogenic —
RS1676302520 BCL11A Health Risk Likely pathogenic Dias-Logan syndrome, Dias-Logan syndrome
RS1676310949 REEP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31
RS1676315050 BCL11A Health Risk Pathogenic —
RS1676326365 BCL11A Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1676346981 BCL11A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1676385056 SPAST Health Risk Pathogenic —
RS1676388641 SPAST Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1676391139 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1676403099 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1676404879 SPAST Health Risk Pathogenic —
RS1676417081 SPAST Health Risk Likely pathogenic —
RS1676453652 REEP1 Health Risk Pathogenic Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31
RS1676463508 REEP1 Health Risk Pathogenic Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31
RS1676557876 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1676571415 POU3F3 Health Risk Likely pathogenic Snijders blok-fisher syndrome, Snijders blok-fisher syndrome
RS1676571583 POU3F3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1676574002 POU3F3 Health Risk Likely pathogenic Snijders blok-fisher syndrome, Snijders blok-fisher syndrome
RS1676574259 POU3F3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1676689811 MERTK Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 38
RS1676833644 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1676862579 MERTK Health Risk Pathogenic Retinitis pigmentosa 38, Retinitis pigmentosa 38
RS1676864249 MERTK Health Risk Likely pathogenic —
RS1676864299 MERTK Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1676864420 MERTK Health Risk Likely pathogenic —
RS1676864515 MERTK Health Risk Likely pathogenic —
RS1676898074 NBAS Health Risk Likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS1676904823 MERTK Health Risk Pathogenic Retinal dystrophy, Retinal disorder
RS1676926630 MERTK Health Risk Pathogenic Retinitis pigmentosa 38, Retinitis pigmentosa 38
RS1677003855 REEP1 Health Risk Pathogenic —
RS1677010564 REEP1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31
RS1677011138 REEP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31
RS1677065097 MERTK Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS1677131770 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hyperparathyroidism 1
RS1677132309 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS1677161997 CYP26B1 Health Risk Likely pathogenic Lethal occipital encephalocele-skeletal dysplasia syndrome, Lethal occipital encephalocele-skeletal dysplasia syndrome
RS1677289241 MERTK Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1677321281 SLC5A7 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 20, Neuronopathy
RS1677347565 MERTK Health Risk Pathogenic —
RS1677368092 MERTK Health Risk Pathogenic —
RS1677397982 NAXE Health Risk Pathogenic Encephalopathy, progressive
RS1677398842 NAXE Health Risk Pathogenic Encephalopathy, progressive
RS1677410327 SFTPB Health Risk Pathogenic Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS1677411235 SFTPB Health Risk Pathogenic —
RS1677478183 SLC5A7 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS1677512620 MERTK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1677514061 MERTK Health Risk Pathogenic —
RS1677532605 SPAST Health Risk Pathogenic —
RS1677532829 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1677533134 SPAST Health Risk Pathogenic —
RS1677533628 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1677547983 NBAS Health Risk Conflicting classifications of pathogenicity Infantile liver failure syndrome 2, Short stature-optic atrophy-Pelger-Huët anomaly syndrome
RS1677552802 NBAS Health Risk Likely pathogenic —
RS1677627735 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1677627829 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1677628649 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1677658252 SFTPB Health Risk Pathogenic Surfactant metabolism dysfunction, pulmonary
RS1677688362 CDC73 Health Risk Pathogenic/Likely pathogenic Parathyroid carcinoma, Hyperparathyroidism 2 with jaw tumors
RS1677695565 ZAP70 Health Risk Likely pathogenic Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
RS1677697539 M1AP Health Risk Pathogenic Spermatogenesis maturation arrest, Spermatogenic failure 48
RS1677757408 CDC73 Health Risk Pathogenic —
RS1677757559 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS1677776275 PTPN4 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1677953034 ZAP70 Health Risk Pathogenic Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
RS1678013520 LPIN1 Health Risk Likely pathogenic Myoglobinuria, acute recurrent
RS1678015232 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS1678016165 CDC73 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1678079858 ASPRV1 Health Risk Pathogenic Autosomal dominant lamellar ichthyosis, Autosomal dominant lamellar ichthyosis
RS1678115852 SLC5A7 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS1678240011 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
RS1678261343 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS1678270963 SLC5A7 Health Risk Likely pathogenic —
RS1678284190 EN1 Health Risk Pathogenic EN1 syndrome, ENDOVE syndrome
RS1678323186 LPIN1 Health Risk Pathogenic —
RS1678508737 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
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