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
RS970696642 TPK1 Health Risk Pathogenic/Likely pathogenic Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
RS970696880 RPGRIP1 Health Risk Likely pathogenic Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS970709883 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS970717805 RECQL Health Risk Conflicting classifications of pathogenicity RECON progeroid syndrome, RECON progeroid syndrome
RS970724368 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, FANCM-related disorder
RS970768801 PDE6B Health Risk Pathogenic Retinitis pigmentosa 40, Congenital stationary night blindness autosomal dominant 2
RS970839121 TOGARAM1 Health Risk Likely pathogenic —
RS970867558 SCN1A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Early-infantile DEE
RS970907026 FKTN Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS970949012 TONSL Health Risk Likely pathogenic —
RS970955155 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS970983506 TK2 Health Risk Pathogenic Mitochondrial disease, Mitochondrial disease
RS970983655 LTBP4 Health Risk Likely pathogenic Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS970990957 ATP5ME;PDE6B Health Risk Pathogenic Retinitis pigmentosa, Tyrosinase-positive oculocutaneous albinism
RS971048873 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS971064120 AMN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS971082831 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS971095282 NLRP1 Health Risk Conflicting classifications of pathogenicity —
RS971134497 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS971159663 MVK Health Risk Pathogenic/Likely pathogenic Mevalonic aciduria, Porokeratosis 3
RS971170451 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS971183744 DDC Health Risk Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS971190119 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS971198723 SIN3A Health Risk Pathogenic SIN3A-related intellectual disability syndrome, SIN3A-related intellectual disability syndrome due to a point mutation
RS971200482 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS971268057 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS971280269 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS971284726 CYFIP2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 65
RS971343343 CD59 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS971356997 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS971398848 COL6A3 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS971419104 MYO5B Health Risk Pathogenic/Likely pathogenic Congenital microvillous atrophy, Congenital microvillous atrophy
RS971444878 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS971466968 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS971473774 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS971534664 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 4
RS971538918 CHM Health Risk Pathogenic —
RS971577563 ABL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS971589777 PSAP Health Risk Likely pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS971592946 TPRN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS971604271 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS971610277 RDH12 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 13, Retinal dystrophy
RS971618751 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS971640387 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Inborn genetic diseases
RS971641043 CACNA1F Health Risk Likely pathogenic —
RS971722789 MECP2 Health Risk Conflicting classifications of pathogenicity Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS971727405 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS971735211 PKD1L1 Health Risk Likely pathogenic PKD1L1-related disorder, PKD1L1-related disorder
RS971746773 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS971749992 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS971779449 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome
RS971794216 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS971817654 PTPN14 Health Risk Pathogenic —
RS971844997 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS971863968 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS971864929 MADD Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies, impaired speech
RS971873834 TG Health Risk Pathogenic —
RS971882211 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS971887742 LCAT Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Fish-eye disease
RS971891189 BUB1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ovarian cancer
RS971946479 EGF Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, Renal hypomagnesemia 4
RS971960235 ADAMTSL4;ADAMTSL4-AS2 Health Risk Pathogenic —
RS971969514 AARS2 Health Risk Likely pathogenic —
RS972002974 RNF13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 73
RS972033083 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS972035685 TBX1 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, TBX1-related disorder
RS972047466 TMPRSS3 Health Risk Likely pathogenic —
RS972049140 PKD1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, PKD1-related disorder
RS972053240 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS972054392 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS972055625 ABCB11 Health Risk Pathogenic —
RS972096803 HPS1 Health Risk Pathogenic/Likely pathogenic HPS1-related disorder, Hermansky-Pudlak syndrome 1
RS972116002 CNTNAP2 Health Risk Pathogenic/Likely pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS972128957 MEN1 Health Risk Likely pathogenic Somatotroph adenoma, Multiple endocrine neoplasia
RS972154930 KIF2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS972160076 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS972161717 ATL1 Health Risk Likely pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS972201049 KCNH2 Health Risk Conflicting classifications of pathogenicity Short QT syndrome type 1, Long QT syndrome 2
RS972221242 TMEM237 Health Risk Likely pathogenic Joubert syndrome 14, Joubert syndrome 14
RS972227888 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS972293793 ETFA Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS972319037 PAK1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS972341316 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS972387746 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS972404343 DARS2 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS972425138 IGHMBP2 Health Risk Pathogenic/Likely pathogenic Neuronopathy, distal hereditary motor
RS972442854 SPEN Health Risk Pathogenic —
RS972466774 MKKS Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS972467458 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS972494690 ATP2A1 Health Risk Pathogenic/Likely pathogenic Brody myopathy, Brody myopathy
RS972547684 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS972547822 SERPINH1 Health Risk Likely pathogenic —
RS972548690 RBFOX3 Health Risk Pathogenic Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes
RS972548876 MEIOB Health Risk Likely pathogenic —
RS972565181 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS972565409 DPAGT1 Health Risk Pathogenic Myopathy with tubular aggregates, Myopathy with tubular aggregates
RS972569803 PLEKHG5 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS972576439 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS972579811 FLG Health Risk Pathogenic —
RS972657462 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
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