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
RS587654671 NOTCH2 Health Risk Conflicting classifications of pathogenicity NOTCH2-related disorder, Hajdu-Cheney syndrome
RS587663163 CTSK Health Risk Pathogenic/Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS58766676 KRT5 Health Risk Pathogenic Epidermolysis bullosa, Epidermolysis bullosa
RS587669420 SURF1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Leigh syndrome
RS587671725 TSPEAR Health Risk Likely pathogenic —
RS587680396 HYAL1 Health Risk Conflicting classifications of pathogenicity Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS587684563 PRUNE1 Health Risk Likely pathogenic PRUNE1-related disorder, PRUNE1-related disorder
RS587687884 PRPF31 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS587688416 HMGCS2 Health Risk Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS587690535 TSPEAR Health Risk Likely pathogenic Tooth agenesis, selective
RS587696191 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS587697719 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS587699821 SURF1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Leigh syndrome
RS587701622 ADAMTS13 Health Risk Conflicting classifications of pathogenicity —
RS587704985 PRPF3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Inborn genetic diseases
RS587705831 PACS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS587707561 CNOT3 Health Risk Conflicting classifications of pathogenicity —
RS587717339 TSPEAR Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 98, Tooth agenesis
RS587718458 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS587720574 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS587726240 CACNA2D2 Health Risk Conflicting classifications of pathogenicity Cerebellar atrophy with seizures and variable developmental delay, Early-infantile DEE
RS587727388 HMGCS2 Health Risk Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS587731307 ZMYND10 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS587731325 PHGDH Health Risk Conflicting classifications of pathogenicity PHGDH deficiency, Neu-Laxova syndrome 1
RS587735797 NOTCH2 Health Risk Conflicting classifications of pathogenicity NOTCH2-related disorder, Inborn genetic diseases
RS587744329 CNOT3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS587745743 PACS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS587748556 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS587750566 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS587753385 SURF1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Leigh syndrome
RS587757028 PRPF31 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS587764801 PEX11B Health Risk Conflicting classifications of pathogenicity —
RS587767779 ADAMTSL4 Health Risk Pathogenic —
RS587767936 CNOT3 Health Risk Likely pathogenic —
RS587768675 ADAMTS13 Health Risk Conflicting classifications of pathogenicity —
RS587771241 SLURP1 Health Risk Conflicting classifications of pathogenicity Acroerythrokeratoderma, Acroerythrokeratoderma
RS587775302 PACS2 Health Risk Conflicting classifications of pathogenicity —
RS587775407 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS587776350 PAX9 Health Risk Pathogenic Tooth agenesis, selective
RS587776351 BRCA2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS587776384 SLC27A4 Health Risk Pathogenic/Likely pathogenic Lamellar ichthyosis, Ichthyosis prematurity syndrome
RS587776398 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS587776401 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS587776402 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS587776403 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS587776404 COL4A5 Health Risk Pathogenic —
RS587776405 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587776406 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS587776407 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS587776408 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS587776409 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS587776410 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587776411 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS587776412 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS587776413 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587776414 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS587776415 PALB2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587776416 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS587776417 PALB2 Health Risk Likely pathogenic Pancreatic cancer, susceptibility to
RS587776418 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS587776419 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS587776420 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS587776423 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587776424 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587776425 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS587776426 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587776427 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS587776428 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587776429 SALL2 Health Risk Pathogenic Coloboma, ocular
RS587776434 MT-ND1 Health Risk Likely pathogenic Leigh syndrome, Mitochondrial disease
RS587776438 MT-ND3 Health Risk Likely pathogenic Leigh syndrome, Mitochondrial disease
RS587776440 MT-ND5 Health Risk Likely pathogenic Leigh syndrome, Mitochondrial disease
RS587776441 MT-TV Health Risk Likely pathogenic MELAS syndrome, Mitochondrial disease
RS587776445 HTRA1 Health Risk Likely pathogenic CARASIL syndrome, CARASIL syndrome
RS587776446 HTRA1 Health Risk Conflicting classifications of pathogenicity CARASIL syndrome, HTRA1-related cerebral small vessel disease
RS587776448 HTRA1 Health Risk Pathogenic CARASIL syndrome, CARASIL syndrome
RS587776451 GATA1 Health Risk Pathogenic Thrombocytopenia, X-linked
RS587776452 GATA1 Health Risk Pathogenic X-linked dyserythropoetic anemia with abnormal platelets and neutropenia, Thrombocytopenia
RS587776453 GATA1 Health Risk Pathogenic X-linked dyserythropoetic anemia with abnormal platelets and neutropenia, Thrombocytopenia
RS587776454 GATA1 Health Risk Conflicting classifications of pathogenicity GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia
RS587776456 GATA1 Health Risk Likely pathogenic Thrombocytopenia, X-linked
RS587776457 NAA10 Health Risk Pathogenic Microphthalmia, syndromic 1
RS587776459 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS587776460 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS587776464 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS587776466 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS587776467 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS587776468 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS587776469 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS587776471 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS587776472 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS587776473 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS587776476 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS587776478 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS587776480 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS587776481 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS587776482 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS587776484 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS587776485 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS587776487 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
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