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
RS2486803720 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486806675 KAT6A Health Risk Pathogenic —
RS2486806807 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS2486807516 KAT6A Health Risk Likely pathogenic KAT6A-related disorder, KAT6A-related disorder
RS2486808089 HGSNAT Health Risk Pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis
RS2486808111 KAT6A Health Risk Conflicting classifications of pathogenicity —
RS2486812921 KAT6A Health Risk Likely pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS2486817571 ANK1 Health Risk Likely pathogenic ANK1-related disorder, ANK1-related disorder
RS2486817952 ANK1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486822374 KAT6A Health Risk Likely pathogenic KAT6A-related disorder, KAT6A-related disorder
RS2486822966 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486823524 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486823536 ANK1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486826655 KAT6A Health Risk Likely pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS2486836794 TEX15 Health Risk Likely pathogenic Spermatogenic failure 25, Spermatogenic failure 25
RS2486838960 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486839062 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486839378 ANK1 Health Risk Pathogenic —
RS2486839570 ANK1 Health Risk Pathogenic —
RS2486842168 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486842193 ANK1 Health Risk Pathogenic —
RS2486847061 HGSNAT Health Risk Pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis
RS2486853907 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486857105 DDHD2 Health Risk Pathogenic Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54
RS2486869082 ANK1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486869276 ANK1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486869415 ANK1 Health Risk Likely pathogenic —
RS2486869462 ANK1 Health Risk Pathogenic —
RS2486881810 NEFL Health Risk Pathogenic Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E
RS2486881927 NEFL Health Risk Pathogenic Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E
RS2486883041 NEFL Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E
RS2486886091 NEFL Health Risk Pathogenic Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E
RS2486886183 NEFL Health Risk Pathogenic Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E
RS2486886254 NEFL Health Risk Pathogenic Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E
RS2486886357 NEFL Health Risk Pathogenic Auditory neuropathy, Auditory neuropathy
RS2486887879 NEFL Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, dominant intermediate G
RS2486899576 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486899596 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486899883 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486900052 ANK1 Health Risk Pathogenic ANK1-related disorder, ANK1-related disorder
RS2486900565 LYN Health Risk Pathogenic LYN kinase associated vasculopathy and liver fibrosis syndrome, Autoinflammatory disease
RS2486900574 LYN Health Risk Pathogenic Autoinflammatory disease, systemic
RS2486900588 LYN Health Risk Pathogenic LYN kinase associated vasculopathy and liver fibrosis syndrome, Autoinflammatory disease
RS2486900824 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486904791 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS2486907364 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486908416 HGSNAT Health Risk Pathogenic/Likely pathogenic HGSNAT-related disorder, Retinitis pigmentosa 73
RS2486913461 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486913654 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486914036 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486914467 ANK1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486915070 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486915303 ANK1 Health Risk Likely pathogenic —
RS2486915489 ANK1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 1, ANK1-related disorder
RS2486918870 HGSNAT Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis
RS2486918882 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS2486918970 HGSNAT Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis
RS2486919204 HGSNAT Health Risk Pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis
RS2486919454 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS2486919501 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS2486922970 DDHD2 Health Risk Likely pathogenic Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54
RS2486923005 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486923028 ANK1 Health Risk Pathogenic —
RS2486923068 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486923136 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486928338 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486933207 ANK1 Health Risk Pathogenic —
RS2486933563 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486933586 ANK1 Health Risk Pathogenic —
RS2486943142 SLC20A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2486943932 ANK1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486944433 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486944833 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486955614 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS2486962491 HGSNAT Health Risk Likely pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis
RS2486962842 ANK1 Health Risk Likely pathogenic —
RS2486962860 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486962958 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486963476 HGSNAT Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS2486963515 ANK1 Health Risk Pathogenic —
RS2486963752 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS2486963908 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS2486964055 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS2486966933 GATA4 Health Risk Pathogenic Atrioventricular septal defect 4, Atrioventricular septal defect 4
RS2486967209 ANK1 Health Risk Pathogenic ANK1-related disorder, ANK1-related disorder
RS2486973322 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS2486973391 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS2486974458 GATA4 Health Risk Likely pathogenic Testicular anomalies with or without congenital heart disease, Atrial septal defect 2
RS2486974873 GATA4 Health Risk Likely pathogenic Atrial septal defect 2, Atrial septal defect 2
RS2486975023 GATA4 Health Risk Pathogenic Atrioventricular septal defect 4, Atrioventricular septal defect 4
RS2486975103 GATA4 Health Risk Likely pathogenic Atrial septal defect 2, Atrial septal defect 2
RS2486975242 GNRH1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism
RS2486976242 ANK1 Health Risk Pathogenic —
RS2486976252 ANK1 Health Risk Likely pathogenic —
RS2486976664 ANK1 Health Risk Pathogenic —
RS2486976789 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486980770 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS2486983740 CASP2 Health Risk Pathogenic Inborn genetic diseases, Intellectual developmental disorder
RS2486983838 CASP2 Health Risk Pathogenic Inborn genetic diseases, Intellectual developmental disorder
RS2486983976 RPS20 Health Risk Pathogenic —
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