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
RS1555350254 OTX2 Health Risk Pathogenic Anophthalmia, Anophthalmia
RS1555350397 OTX2 Health Risk Likely pathogenic 9 conditions, 9 conditions
RS1555351849 POMT2 Health Risk Likely pathogenic —
RS1555351889 POMT2 Health Risk Likely pathogenic —
RS1555351894 POMT2 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1555352516 PSMA3 Health Risk Pathogenic PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC
RS1555352529 NEK9 Health Risk Pathogenic Nevus comedonicus syndrome, Nevus comedonicus syndrome
RS1555352706 POMT2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1555353410 PSMA3 Health Risk Pathogenic PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC
RS1555354172 POMT2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2N, Autosomal recessive limb-girdle muscular dystrophy type 2N
RS1555354198 SRP54 Health Risk Pathogenic/Likely pathogenic Shwachman-Diamond syndrome 1, Neutropenia
RS1555354200 SRP54 Health Risk Pathogenic Shwachman-Diamond syndrome 1, Neutropenia
RS1555354564 PSEN1 Health Risk Likely pathogenic —
RS1555354581 PSEN1 Health Risk Likely pathogenic —
RS1555354750 SRP54 Health Risk Pathogenic/Likely pathogenic Shwachman-Diamond syndrome 1, Neutropenia
RS1555355250 PSEN1 Health Risk Pathogenic/Likely pathogenic Frontotemporal dementia, Acne inversa
RS1555355289 PSEN1 Health Risk Likely pathogenic —
RS1555356398 POMT2 Health Risk Likely pathogenic Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies, Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
RS1555357544 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Pick disease
RS1555358260 PSEN1 Health Risk Likely pathogenic Alzheimer disease 3, Alzheimer disease 3
RS1555358382 GCH1 Health Risk Pathogenic/Likely pathogenic 6 conditions, GTP cyclohydrolase I deficiency
RS1555358507 GCH1 Health Risk Pathogenic/Likely pathogenic Dystonia 5, GTP cyclohydrolase I deficiency
RS1555358599 GCH1 Health Risk Pathogenic Dystonia 5, GTP cyclohydrolase I deficiency
RS1555358604 GCH1 Health Risk Pathogenic Dystonia 5, GTP cyclohydrolase I deficiency
RS1555358729 COQ6 Health Risk Pathogenic Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness
RS1555360027 TGFB3 Health Risk Likely pathogenic Rienhoff syndrome, Rienhoff syndrome
RS1555360034 GCH1 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency
RS1555360047 TGFB3 Health Risk Pathogenic/Likely pathogenic Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1
RS1555360050 GCH1 Health Risk Pathogenic Dystonia 5, GTP cyclohydrolase I deficiency
RS1555360212 TGFB3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome
RS1555360222 TGFB3 Health Risk Pathogenic/Likely pathogenic Rienhoff syndrome, Rienhoff syndrome
RS1555360229 TGFB3 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome
RS1555360362 TGFB3 Health Risk Likely pathogenic Rienhoff syndrome, Rienhoff syndrome
RS1555360368 TGFB3 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome
RS1555360883 TGFB3 Health Risk Likely pathogenic Rienhoff syndrome, Rienhoff syndrome
RS1555361385 TGFB3 Health Risk Pathogenic Rienhoff syndrome, Rienhoff syndrome
RS1555361451 TGFB3 Health Risk Pathogenic —
RS1555361758 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1555361990 FANCM Health Risk Likely pathogenic —
RS1555362835 GCH1 Health Risk Pathogenic Dystonia 5, GTP cyclohydrolase I deficiency
RS1555362843 GCH1 Health Risk Likely pathogenic GTP cyclohydrolase I deficiency, Dystonia 5
RS1555362845 GCH1 Health Risk Pathogenic GTP cyclohydrolase I deficiency, Dystonia 5
RS1555362905 GCH1 Health Risk Likely pathogenic —
RS1555362907 GCH1 Health Risk Pathogenic GTP cyclohydrolase I deficiency, Dystonia 5
RS1555363275 FANCM Health Risk Pathogenic Spermatogenic failure 28, Spermatogenic failure 28
RS1555363969 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS1555364149 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS1555364153 ATL1 Health Risk Likely pathogenic —
RS1555364246 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS1555364247 ATL1 Health Risk Likely pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS1555364837 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1555364979 VIPAS39 Health Risk Pathogenic Arthrogryposis, renal dysfunction
RS1555365509 ATL1 Health Risk Pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS1555365512 ATL1 Health Risk Likely pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS1555365595 ATL1 Health Risk Likely pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS1555365597 ATL1 Health Risk Pathogenic Neuropathy, hereditary sensory
RS1555365850 ATL1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS1555365854 ATL1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS1555365959 FANCM Health Risk Pathogenic Spermatogenic failure 28, Spermatogenic failure 28
RS1555366045 CALM1 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14
RS1555366197 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1555366309 SIX1 Health Risk Conflicting classifications of pathogenicity Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23
RS1555366438 VIPAS39 Health Risk Likely pathogenic Arthrogryposis, renal dysfunction
RS1555366592 SPTB Health Risk Likely pathogenic Hereditary spherocytosis, Hereditary spherocytosis
RS1555366607 SPTB Health Risk Pathogenic Hereditary spherocytosis, Hereditary spherocytosis
RS1555366979 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1555367318 SPTB Health Risk Pathogenic Hemolytic anemia, Hemolytic anemia
RS1555367359 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS1555367522 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1555367601 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1555367789 SPTB Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS1555367891 SERPINA1 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1555367892 SERPINA1 Health Risk Pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1555367896 SERPINA1 Health Risk Pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1555367897 SERPINA1 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1555367924 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1555367927 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1555368345 GABRB3 Health Risk Pathogenic Developmental and epileptic encephalopathy, 43
RS1555368535 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1555368557 SERPINA1 Health Risk Pathogenic/Likely pathogenic Alpha-1-antitrypsin deficiency, SERPINA1-related disorder
RS1555368626 GABRB3 Health Risk Likely pathogenic —
RS1555368636 GABRB3 Health Risk Likely pathogenic —
RS1555368749 OCA2 Health Risk Pathogenic/Likely pathogenic Nonsyndromic Oculocutaneous Albinism, Nonsyndromic Oculocutaneous Albinism
RS1555368758 SERPINA1 Health Risk Pathogenic/Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1555368900 YY1 Health Risk Likely pathogenic —
RS1555369050 IFT43 Health Risk Likely pathogenic Short-rib thoracic dysplasia 18 with polydactyly, Short rib-polydactyly syndrome
RS1555369128 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1555369172 SERPINA1 Health Risk Pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1555369299 SERPINA1 Health Risk Pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1555369473 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1555369579 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555369632 DICER1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1555369657 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS1555370248 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1555370268 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1555370297 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1555370456 MKRN3 Health Risk Likely pathogenic —
RS1555370458 SPATA7 Health Risk Pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS1555370776 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1555370787 FGF14 Health Risk Pathogenic Spinocerebellar ataxia type 27, Spinocerebellar ataxia 27A
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