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
RS200414962 UMOD Health Risk Conflicting classifications of pathogenicity —
RS200414966 GANAB Health Risk Conflicting classifications of pathogenicity GANAB-related disorder, Inborn genetic diseases
RS200415017 PEX16 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, PEX16-related disorder
RS200415528 DHCR24 Health Risk Conflicting classifications of pathogenicity Desmosterolosis, Desmosterolosis
RS200415537 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS200415625 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, FLNC-related disorder
RS200415679 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS200415747 KCTD7 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS200415824 TJP2 Health Risk Conflicting classifications of pathogenicity TJP2-related disorder, Familial cancer of breast
RS200415928 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS200416138 FANCF Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group F, Fanconi anemia
RS200416242 DNAH1 Health Risk Conflicting classifications of pathogenicity Ciliary dyskinesia, primary
RS200416306 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS200416402 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Alport syndrome 3b
RS200416489 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS200416912 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11
RS200417237 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, Bartter disease type 1
RS200417604 ALS2 Health Risk Conflicting classifications of pathogenicity ALS2-related disorder, Amyotrophic lateral sclerosis type 2
RS200417926 NDUFV1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS200417975 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, MCOLN1-related disorder
RS200418725 NPHP3 Health Risk Conflicting classifications of pathogenicity NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1
RS200418811 CEP120 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 13 with or without polydactyly, CEP120-related disorder
RS200419008 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS200419722 CFI Health Risk Pathogenic Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13
RS200420073 TMPO Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS200420117 LIPA Health Risk Conflicting classifications of pathogenicity Wolman disease, Lysosomal acid lipase deficiency
RS200420144 GALNT12 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS200420254 MPEG1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 77, Immunodeficiency 77
RS200420513 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS200420603 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease
RS200420874 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS200420897 RYR2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS200420912 RIPK4 Health Risk Conflicting classifications of pathogenicity Bartsocas-Papas syndrome 1, RIPK4-related disorder
RS200420920 CUX2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 67
RS200421731 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS200421746 HNF1B Health Risk Conflicting classifications of pathogenicity HNF1B-related disorder, HNF1B-related disorder
RS200421954 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS200422043 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS200422152 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200422211 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS200422222 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS200422610 ORC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200422681 CACNA1H Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS200423083 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS200423257 KIAA1549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200423380 PHF6 Health Risk Conflicting classifications of pathogenicity Borjeson-Forssman-Lehmann syndrome, PHF6-related disorder
RS200423553 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS200423662 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Familial infantile myasthenia
RS200423723 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Hyperplastic polyposis syndrome
RS200424270 PLEKHG5 Health Risk Conflicting classifications of pathogenicity —
RS200424400 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, MYH14-related disorder
RS200424447 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS200424566 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS200424850 COL9A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200424851 MYO15A Health Risk Conflicting classifications of pathogenicity MYO15A-related disorder, MYO15A-related disorder
RS200425622 GRHL3 Health Risk Conflicting classifications of pathogenicity Van der Woude syndrome 2, Van der Woude syndrome 2
RS200425724 FASTKD2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS200425929 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS200426430 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 33, Retinal dystrophy
RS200426807 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS200426926 THOC6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
RS200427211 DDX3X Health Risk Pathogenic —
RS200427237 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS200427297 ATP2C1 Health Risk Conflicting classifications of pathogenicity Familial benign pemphigus, Familial benign pemphigus
RS200427576 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS200427760 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS200427761 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200427832 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 6
RS200427839 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200427925 PHKG2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXc, Glycogen storage disease IXc
RS200428347 CD19 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200428576 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS200428940 OPA1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant optic atrophy classic form, Inborn genetic diseases
RS200429314 ESPN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200429476 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS200429513 TBX4 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS200429988 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6
RS200430037 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS200430407 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Inborn genetic diseases
RS200430442 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS200430493 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200431100 ERCC6 Health Risk Conflicting classifications of pathogenicity 7 conditions, 7 conditions
RS200431101 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS200431186 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS200431631 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS200432306 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, MYPN-related myopathy
RS200432447 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Breast and colorectal cancer
RS200432701 DNAH1 Health Risk Likely pathogenic —
RS200432719 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200432771 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS200432861 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal dominant polycystic liver disease
RS200432874 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS200432936 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200433282 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS200433372 F8 Health Risk Conflicting classifications of pathogenicity Hereditary factor VIII deficiency disease, Thrombophilia
RS200433873 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS200434321 MUSK Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS200434678 TSEN54 Health Risk Conflicting classifications of pathogenicity Olivopontocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS200434813 RASGRP2 Health Risk Likely pathogenic Platelet-type bleeding disorder 18, Platelet-type bleeding disorder 18
RS200434912 CHD3 Health Risk Conflicting classifications of pathogenicity Snijders Blok-Campeau syndrome, CHD3-related disorder
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