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
RS1892208700 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1892252730 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1892256928 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS1892281118 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS189229644 PAX8 Health Risk Conflicting classifications of pathogenicity Hypothyroidism, congenital
RS1892298729 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS189230735 CNGB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS189230866 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS189232206 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS189232336 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, ADGRV1-related disorder
RS1892325359 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS1892331030 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, Endometrial carcinoma
RS1892333159 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS189233521 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS1892346320 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS189234741 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 45
RS189236939 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS189237891 KCNJ16 Health Risk Pathogenic Hypokalemic tubulopathy and deafness, Hypokalemic tubulopathy and deafness
RS1892381031 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1892389194 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1892391065 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1892394875 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS189242647 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kabuki syndrome
RS189242810 VCL Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS1892449432 MYH7 Health Risk Likely pathogenic —
RS1892451015 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS1892451403 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS1892473626 GABRB3 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS1892476410 GABRB3 Health Risk Pathogenic Epilepsy, childhood absence
RS1892481172 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS189248390 OTOG Health Risk Conflicting classifications of pathogenicity OTOG-related disorder, OTOG-related disorder
RS1892488234 DICER1 Health Risk Pathogenic —
RS189249326 SLC5A5 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 1, SLC5A5-related disorder
RS1892495588 NEMF Health Risk Pathogenic Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
RS1892495985 NEMF Health Risk Pathogenic Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
RS1892498387 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS189250711 ITGB2 Health Risk Pathogenic —
RS1892542522 MEIS2 Health Risk Likely pathogenic —
RS1892547180 MEIS2 Health Risk Likely pathogenic —
RS189255177 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases
RS189256993 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS1892571828 CCDC88C Health Risk Likely pathogenic —
RS1892592854 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1892596331 TDP1 Health Risk Likely pathogenic —
RS189260652 ABCA7 Health Risk Conflicting classifications of pathogenicity —
RS1892609218 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS189261750 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS189261858 TSHR Health Risk Pathogenic/Likely pathogenic Hypothyroidism due to TSH receptor mutations, Congenital hypothyroidism
RS1892625481 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Biventricular noncompaction cardiomyopathy
RS1892669150 NEMF Health Risk Likely pathogenic See cases, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
RS1892670575 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1
RS1892675036 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS1892684240 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, MYH7-related disorder
RS1892685560 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS189270359 TONSL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS189270875 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1892713617 CEP152 Health Risk Conflicting classifications of pathogenicity —
RS1892729277 MYH7 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1892730026 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1
RS1892745662 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS189274856 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Congenital Muscular Dystrophy
RS189276809 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS189278573 RRM2B Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS1892789510 MYH7 Health Risk Likely pathogenic Dilated cardiomyopathy 1S, Dilated cardiomyopathy 1S
RS1892793686 ORAI1 Health Risk Pathogenic Myopathy, tubular aggregate
RS1892796424 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS189280108 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS1892810348 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1892816286 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS189282419 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, RYR3-related disorder
RS189284385 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Usher syndrome type 1F
RS1892853569 DLL4 Health Risk Pathogenic Adams-Oliver syndrome 6, Adams-Oliver syndrome 6
RS189286381 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1892886613 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS189289937 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS189290632 MAP3K1 Health Risk Conflicting classifications of pathogenicity 46, XY sex reversal 6
RS1892912520 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS1892947729 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1892948780 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy
RS1892956157 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS189296705 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS1892998702 NEMF Health Risk Likely pathogenic Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
RS1893002285 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS1893016936 SMAD6 Health Risk Likely pathogenic Radioulnar synostosis, Radioulnar synostosis
RS189301790 PLCG2 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
RS1893018000 SMAD6 Health Risk Pathogenic Radioulnar synostosis, Radioulnar synostosis
RS1893025235 SMAD6 Health Risk Pathogenic Radioulnar synostosis, Radioulnar synostosis
RS1893025784 SMAD6 Health Risk Likely pathogenic Radioulnar synostosis, Radioulnar synostosis
RS1893037722 SMAD6 Health Risk Pathogenic Aortic valve disease 2, Radioulnar synostosis
RS1893041246 SMAD6 Health Risk Likely pathogenic Radioulnar synostosis, Radioulnar synostosis
RS1893041298 SMAD6 Health Risk Likely pathogenic Craniosynostosis 7, Craniosynostosis 7
RS1893047812 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Aortic valve disease 2
RS1893050626 ORAI1 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to ORAI1 deficiency, Myopathy
RS189308323 PKD1L1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS189308547 DNAJC5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS189315801 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS1893184174 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS189318877 XIRP2 Health Risk Conflicting classifications of pathogenicity —
RS1893193729 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1893200825 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
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