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
RS1568497199 RYR1 Health Risk Pathogenic RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS1568498107 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Neoplasm
RS1568499702 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1568501059 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS1568501271 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1568501473 RYR1 Health Risk Pathogenic Congenital multicore myopathy with external ophthalmoplegia, Congenital multicore myopathy with external ophthalmoplegia
RS1568501702 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1568503046 RYR1 Health Risk Likely pathogenic —
RS1568503938 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1568504941 CIC Health Risk Likely pathogenic Intellectual disability, autosomal dominant 45
RS1568506608 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1568507151 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS1568507354 RYR1 Health Risk Likely pathogenic Central core myopathy, Malignant hyperthermia
RS1568508047 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS1568509739 RYR1 Health Risk Likely pathogenic —
RS1568509890 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1568509937 ITPA Health Risk Pathogenic Inosine triphosphatase deficiency, Inosine triphosphatase deficiency
RS1568510163 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1568510406 RYR1 Health Risk Pathogenic Central core myopathy, Central core myopathy
RS1568512728 CSNK2A1 Health Risk Likely pathogenic Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome
RS1568514017 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1568514116 CACNA1A Health Risk Pathogenic/Likely pathogenic Episodic ataxia type 2, Inborn genetic diseases
RS1568514371 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS1568515222 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS1568518113 CACNA1A Health Risk Likely pathogenic —
RS1568518139 CACNA1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1568523662 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1568523843 CACNA1A Health Risk Pathogenic Spinocerebellar ataxia type 6, Inborn genetic diseases
RS1568523935 SLC25A42 Health Risk Likely pathogenic SLC25A42-related mitochondrial encephalomyopathy, SLC25A42-related mitochondrial encephalomyopathy
RS1568524980 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Central core myopathy
RS1568528144 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1568528171 CEACAM16 Health Risk Pathogenic Hearing loss, autosomal recessive 113
RS1568528185 SLC4A11 Health Risk Likely pathogenic Corneal dystrophy-perceptive deafness syndrome, Congenital hereditary endothelial dystrophy of cornea
RS1568528298 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1568528491 SMARCA4 Health Risk Pathogenic SMARCA4-related disorder, Rhabdoid tumor predisposition syndrome 2
RS1568530396 ERCC2 Health Risk Conflicting classifications of pathogenicity —
RS1568530415 SLC7A9 Health Risk Pathogenic Cystine urolithiasis, Cystine urolithiasis
RS1568530776 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1568532361 CSNK2A1 Health Risk Pathogenic Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome
RS1568532461 SLC7A9 Health Risk Likely pathogenic —
RS1568537774 RYR1 Health Risk Conflicting classifications of pathogenicity Central core disease, autosomal recessive
RS1568539909 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1568539930 SLC4A11 Health Risk Pathogenic —
RS1568546120 ERCC2 Health Risk Pathogenic Xeroderma pigmentosum, group D
RS1568546252 ERCC2 Health Risk Pathogenic Xeroderma pigmentosum, group D
RS1568546568 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS1568546593 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1568547326 CPT1C Health Risk Pathogenic Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
RS1568548317 IDH3B Health Risk Likely pathogenic —
RS1568549310 RYR1 Health Risk Pathogenic/Likely pathogenic —
RS1568550769 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Retinal dystrophy
RS1568554484 COMP Health Risk Likely pathogenic —
RS1568554654 RBCK1 Health Risk Pathogenic Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1
RS1568554988 COMP Health Risk Likely pathogenic Multiple epiphyseal dysplasia type 1, Multiple epiphyseal dysplasia type 1
RS1568560821 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1568562752 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1568565786 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1568566883 MEGF8 Health Risk Pathogenic MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome
RS1568569290 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 42
RS1568569941 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1568570002 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1568571093 PLCB1 Health Risk Pathogenic —
RS1568573490 SIPA1L3 Health Risk Pathogenic Cataract 45, Cataract 45
RS1568574634 CACNA1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS1568574931 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1568574966 PLCB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 12
RS1568575238 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1568575271 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1568576386 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1568577135 PLCB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 12
RS1568578781 RFXANK Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS1568579235 RFXANK Health Risk Likely pathogenic MHC class II deficiency, MHC class II deficiency 2
RS1568579997 RFXANK Health Risk Likely pathogenic MHC class II deficiency, RFXANK-related disorder
RS1568581720 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1568582347 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1568582652 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Homozygous familial hypercholesterolemia
RS1568582893 RYR1 Health Risk Pathogenic/Likely pathogenic Central core myopathy, Congenital myopathy with fiber type disproportion
RS1568583728 RYR1 Health Risk Pathogenic Congenital multicore myopathy with external ophthalmoplegia, Congenital multicore myopathy with external ophthalmoplegia
RS1568583900 RYR1 Health Risk Likely pathogenic —
RS1568584027 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1568584452 RYR1 Health Risk Pathogenic —
RS1568587495 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1568590155 CCDC8 Health Risk Pathogenic 3M syndrome 3, 3M syndrome 3
RS1568591803 RYR1 Health Risk Likely pathogenic RYR1-related disorder, Central core myopathy
RS1568591929 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Hypercholesterolemia
RS1568592055 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1568593747 RYR1 Health Risk Likely pathogenic —
RS1568593906 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1568593922 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, Malignant hyperthermia
RS1568593984 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, Central core myopathy
RS1568594068 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1568594903 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS1568595930 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1568596962 LDLR Health Risk Likely pathogenic —
RS1568600184 PRPF31 Health Risk Pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS1568600328 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Hypercholesterolemia
RS1568600415 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS1568600459 LDLR Health Risk Pathogenic/Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS1568601643 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS1568604251 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
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