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
RS1594403511 NKX2-1 Health Risk Likely pathogenic Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome
RS1594403990 NKX2-1 Health Risk Pathogenic/Likely pathogenic Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome
RS1594406727 NKX2-1 Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS1594406926 NKX2-1 Health Risk Likely pathogenic Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome
RS1594407006 NKX2-1 Health Risk Likely pathogenic Benign hereditary chorea, Benign hereditary chorea
RS1594407150 NKX2-1 Health Risk Pathogenic Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome
RS1594413545 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1594413897 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1594415353 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS1594422506 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS1594422676 IGHMBP2 Health Risk Pathogenic —
RS1594427410 IGHMBP2 Health Risk Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1, Autosomal recessive distal spinal muscular atrophy 1
RS1594427504 PNP Health Risk Pathogenic/Likely pathogenic Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
RS1594427564 IGHMBP2 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS1594445698 IGHMBP2 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS1594451999 IGHMBP2 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1594453111 IGHMBP2 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS1594456890 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS1594458526 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS1594462950 LIG4 Health Risk Likely pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS1594465933 PAX9 Health Risk Pathogenic Hypodontia, Hypodontia
RS1594467393 PAX9 Health Risk Pathogenic —
RS1594475481 PAX9 Health Risk Pathogenic Tooth agenesis, selective
RS1594481199 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS1594530228 COL4A1 Health Risk Likely pathogenic —
RS1594535661 COL4A1 Health Risk Pathogenic/Likely pathogenic Brain small vessel disease 1 with or without ocular anomalies, See cases
RS1594550371 COL4A1 Health Risk Likely pathogenic —
RS1594551449 TINF2 Health Risk Pathogenic Revesz syndrome, Revesz syndrome
RS1594555106 COL4A1 Health Risk Pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS1594560766 COL4A1 Health Risk Likely pathogenic Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
RS1594566006 COL4A1 Health Risk Pathogenic —
RS1594566751 COL4A1 Health Risk Likely pathogenic Brain small vessel disease 1 with or without ocular anomalies, Microangiopathy and leukoencephalopathy
RS1594567244 TGM1 Health Risk Likely pathogenic —
RS1594568541 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS1594568948 COL4A1 Health Risk Pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS1594571148 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS1594571770 TGM1 Health Risk Pathogenic —
RS1594574182 SYNE1 Health Risk Likely pathogenic —
RS1594579579 COL4A1 Health Risk Pathogenic Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
RS1594580431 GRK1 Health Risk Likely pathogenic Congenital stationary night blindness, Oguchi disease-2
RS1594608287 DNAAF2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1594616249 NALCN Health Risk Likely pathogenic Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS1594631582 SIX6 Health Risk Pathogenic Nystagmus, Microcornea
RS1594642302 RALGAPA1 Health Risk Pathogenic Feeding difficulties, Neurodevelopmental disorder with hypotonia
RS1594751659 ACTN1 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 15, ACTN1-related disorder
RS1594753904 SPTB Health Risk Pathogenic Elliptocytosis 3, Elliptocytosis 3
RS1594755688 ACTN1 Health Risk Likely pathogenic Platelet-type bleeding disorder 15, Platelet-type bleeding disorder 15
RS1594756590 ACTN1 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia, Platelet-type bleeding disorder 15
RS1594757530 MAB21L1 Health Risk Likely pathogenic Hypoplasia of scrotum, Hypoplasia of scrotum
RS1594758038 ACTN1 Health Risk Likely pathogenic Thrombocytopenia, Thrombocytopenia
RS1594758046 ACTN1 Health Risk Likely pathogenic Thrombocytopenia, Thrombocytopenia
RS1594759803 NALCN Health Risk Pathogenic/Likely pathogenic Hypotonia, infantile
RS1594760036 ACTN1 Health Risk Pathogenic/Likely pathogenic Platelet-type bleeding disorder 15, Platelet-type bleeding disorder 15
RS1594760140 ACTN1 Health Risk Likely pathogenic Platelet-type bleeding disorder 15, Platelet-type bleeding disorder 15
RS1594761911 NALCN Health Risk Pathogenic Hypotonia, infantile
RS1594767593 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS1594768463 ACTN1 Health Risk Likely pathogenic Platelet-type bleeding disorder 15, Platelet-type bleeding disorder 15
RS1594768482 ACTN1 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia, Platelet-type bleeding disorder 15
RS1594770057 SPTB Health Risk Pathogenic —
RS1594771155 ACTN1 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia, Macrothrombocytopenia
RS1594771224 ACTN1 Health Risk Likely pathogenic Platelet-type bleeding disorder 15, Platelet-type bleeding disorder 15
RS1594771236 ACTN1 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 15, Platelet-type bleeding disorder 15
RS1594771270 ACTN1 Health Risk Likely pathogenic Platelet-type bleeding disorder 15, Platelet-type bleeding disorder 15
RS1594773549 ACTN1 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 15, Macrothrombocytopenia
RS1594773586 SPTB Health Risk Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS1594773895 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS1594775390 SPTB Health Risk Pathogenic —
RS1594784544 CFL2 Health Risk Pathogenic Nemaline myopathy 7, Nemaline myopathy 7
RS1594785775 FLVCR2 Health Risk Likely pathogenic Fowler syndrome, Fowler syndrome
RS1594787989 TGFB3 Health Risk Likely pathogenic —
RS1594792135 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1594792447 TGFB3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome
RS1594792712 BMP4 Health Risk Likely pathogenic —
RS1594794303 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS1594796132 SPTB Health Risk Likely pathogenic —
RS1594796374 SPTB Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Hereditary spherocytosis type 3
RS1594796439 POMT2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1594797693 IRF2BPL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with regression
RS1594797739 IRF2BPL Health Risk Pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS1594798157 IRF2BPL Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1594810556 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1594810654 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1594816203 COQ6 Health Risk Pathogenic Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness
RS1594865036 RDH12 Health Risk Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS1594865064 RDH12 Health Risk Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS1594865068 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS1594865434 RDH12 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS1594866237 RDH12 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1594867516 RDH12 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Leber congenital amaurosis 13
RS1594867551 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS1594867597 RDH12 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1594878619 RALGAPA1 Health Risk Pathogenic Feeding difficulties, Neurodevelopmental disorder with hypotonia
RS1594882933 LACC1 Health Risk Pathogenic Juvenile arthritis due to defect in LACC1, Juvenile arthritis due to defect in LACC1
RS1594883470 LACC1 Health Risk Pathogenic Juvenile arthritis due to defect in LACC1, Juvenile arthritis due to defect in LACC1
RS1594884932 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS1594890601 LACC1 Health Risk Pathogenic Juvenile arthritis due to defect in LACC1, Juvenile arthritis due to defect in LACC1
RS1594895847 VIPAS39 Health Risk Pathogenic Arthrogryposis, renal dysfunction
RS1594898627 ZFYVE26 Health Risk Pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS1594900921 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1594906944 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
« Prev 1 ... 1106 1107 1108 1109 1110 1111 1112 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →