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
RS2057448454 FBXO7 Health Risk Pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS2057454001 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2057483219 KAT8 Health Risk Likely pathogenic Inborn genetic diseases, Li-Ghorbani-Weisz-Hubshman syndrome
RS2057490468 FBXO7 Health Risk Pathogenic/Likely pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS2057499255 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2057499617 TTN Health Risk Likely pathogenic —
RS2057501802 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2057531939 FBXO7 Health Risk Pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS2057538050 KAT8 Health Risk Pathogenic Li-Ghorbani-Weisz-Hubshman syndrome, Li-Ghorbani-Weisz-Hubshman syndrome
RS2057538160 KAT8 Health Risk Pathogenic Li-Ghorbani-Weisz-Hubshman syndrome, Li-Ghorbani-Weisz-Hubshman syndrome
RS2057541040 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2057541271 RUNX1 Health Risk Pathogenic Acute myeloid leukemia, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2057541324 RUNX1 Health Risk Likely pathogenic Thrombocytopenia, Abnormal bleeding
RS2057544094 LAMA1 Health Risk Likely pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS2057587604 FBXO7 Health Risk Pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS2057587984 FBXO7 Health Risk Pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS2057593272 PGAP3 Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4
RS2057610007 LAMA1 Health Risk Likely pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS2057643696 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2057660103 LAMA1 Health Risk Pathogenic —
RS2057661952 TTN Health Risk Likely pathogenic —
RS2057666079 PMS1 Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS2057699910 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2057717676 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2057721188 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS2057722066 CACNA1A Health Risk Pathogenic —
RS2057730983 LAMA1 Health Risk Likely pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS2057734561 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2057736834 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS2057739636 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2057740525 CACNA1A Health Risk Pathogenic —
RS2057753419 STAG2 Health Risk Pathogenic Holoprosencephaly 13, X-linked
RS2057764630 SYN1 Health Risk Conflicting classifications of pathogenicity Epilepsy, X-linked 1
RS2057771219 SYN1 Health Risk Pathogenic Seizure, Epilepsy
RS2057777177 LAMA1 Health Risk Pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS2057777813 SYN1 Health Risk Conflicting classifications of pathogenicity Epilepsy, X-linked 1
RS2057789980 LAMA1 Health Risk Pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS2057840623 STAG2 Health Risk Conflicting classifications of pathogenicity Mullegama-Klein-Martinez syndrome, Mullegama-Klein-Martinez syndrome
RS2057842904 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS2057848462 LAMA1 Health Risk Pathogenic —
RS2057883934 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
RS2057891984 SYN1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 50
RS2057892179 SYN1 Health Risk Pathogenic —
RS2057900552 SYN1 Health Risk Likely pathogenic Epilepsy, X-linked 1
RS2057914149 DNAAF4 Health Risk Likely pathogenic —
RS2057934167 WDR4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2057941229 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS2057941303 SYN1 Health Risk Pathogenic Intellectual disability, X-linked 50
RS2057942403 SYN1 Health Risk Pathogenic/Likely pathogenic Epilepsy, X-linked 1
RS2057947681 CACNA1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS2057948232 CACNA1A Health Risk Pathogenic Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 6
RS2057948502 CACNA1A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 42
RS2057953268 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2057955936 RFXAP Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS2057986431 IL10RA;LOC130006833 Health Risk Pathogenic Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS2057989087 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2057997150 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2057997486 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2057998063 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2057998110 RUNX1 Health Risk Pathogenic Abnormal bleeding, Thrombocytopenia
RS2057999400 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2058001839 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2058002908 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Acute myeloid leukemia
RS2058004321 RUNX1 Health Risk Pathogenic Thrombocytopenia, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2058028450 TTN Health Risk Conflicting classifications of pathogenicity TTN-related disorder, Cardiomyopathy
RS2058028669 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2058029089 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2058033367 STAG2 Health Risk Pathogenic/Likely pathogenic See cases, See cases
RS2058035458 LAMA1 Health Risk Likely pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS2058036751 IL10RA Health Risk Pathogenic Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS2058057299 CACNA1A Health Risk Pathogenic/Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2058068934 RBL2 Health Risk Pathogenic Brunet-Wagner neurodevelopmental syndrome, Brunet-Wagner neurodevelopmental syndrome
RS2058143736 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2058146182 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2058161147 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2058179740 DNAAF4 Health Risk Pathogenic Primary ciliary dyskinesia 25, Primary ciliary dyskinesia 25
RS2058187525 XPNPEP3 Health Risk Pathogenic Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1
RS2058205143 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2058229729 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2058237051 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2058265845 PSMB10 Health Risk Pathogenic Proteasome-associated autoinflammatory syndrome 5, Proteasome-associated autoinflammatory syndrome 5
RS2058265858 PSMB10 Health Risk Pathogenic Proteasome-associated autoinflammatory syndrome 5, Proteasome-associated autoinflammatory syndrome 5
RS2058270689 RBP4 Health Risk Likely pathogenic Microphthalmia, isolated
RS2058283703 RBP4 Health Risk Pathogenic Progressive retinal dystrophy due to retinol transport defect, Retinal dystrophy
RS2058288753 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2058298885 LCAT Health Risk Conflicting classifications of pathogenicity LCAT deficiency, Cardiovascular phenotype
RS2058305359 TTN Health Risk Pathogenic —
RS2058311848 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2058315149 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2058320138 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2058321851 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2058330715 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2058347214 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2058350211 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2058354383 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2058357329 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2058357396 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS2058357964 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2058358025 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2058358241 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
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