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
RS74315474 ARSA Health Risk Pathogenic METACHROMATIC LEUKODYSTROPHY, SEVERE
RS74315475 ARSA Health Risk Pathogenic METACHROMATIC LEUKODYSTROPHY, SEVERE
RS74315476 ARSA Health Risk Pathogenic METACHROMATIC LEUKODYSTROPHY, SEVERE
RS74315477 ARSA Health Risk Pathogenic/Likely pathogenic METACHROMATIC LEUKODYSTROPHY, MILD
RS74315478 ARSA Health Risk Likely pathogenic ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE
RS74315479 ARSA Health Risk Pathogenic/Likely pathogenic ARYLSULFATASE A PSEUDODEFICIENCY, INTERMEDIATE
RS74315480 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS74315481 ARSA Health Risk Pathogenic/Likely pathogenic METACHROMATIC LEUKODYSTROPHY, MILD
RS74315482 ARSA Health Risk Pathogenic ARYLSULFATASE A PSEUDODEFICIENCY, ARYLSULFATASE A PSEUDODEFICIENCY
RS74315483 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, late infantile form
RS74315484 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, late infantile form
RS74315485 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, juvenile type
RS74315486 CRYBA4 Health Risk Pathogenic Cataract 23, Cataract 23
RS74315487 CRYBA4 Health Risk Pathogenic Cataract 23, Cataract 23
RS74315488 CRYBB1 Health Risk Pathogenic Cataract 17 multiple types, Cataract 17 multiple types
RS74315489 CRYBB2 Health Risk Pathogenic Cataract 3 multiple types, Developmental cataract
RS74315490 CRYBB3 Health Risk Pathogenic Developmental cataract, Cataract 22 multiple types
RS74315492 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS74315493 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS74315494 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS74315495 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS74315496 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS74315497 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS74315498 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS74315499 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS74315500 NF2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS74315501 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS74315503 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS74315504 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS74315505 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS74315506 PEX26 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS74315507 RAC2 Health Risk Pathogenic Neutrophil immunodeficiency syndrome, Neutrophil immunodeficiency syndrome
RS74315508 RTN4R Health Risk risk factor Schizophrenia, susceptibility to
RS74315509 RTN4R Health Risk risk factor Schizophrenia, susceptibility to
RS74315510 SCO2 Health Risk Pathogenic Cardioencephalomyopathy, fatal infantile
RS74315511 SCO2 Health Risk Pathogenic Cardioencephalomyopathy, fatal infantile
RS74315512 SCO2 Health Risk Pathogenic/Likely pathogenic Cardioencephalomyopathy, fatal infantile
RS74315513 SMARCB1 Health Risk Pathogenic SMARCB1-related schwannomatosis, Hereditary cancer-predisposing syndrome
RS74315514 SOX10 Health Risk Pathogenic Waardenburg syndrome type 4C, Waardenburg syndrome type 4C
RS74315515 SOX10 Health Risk Pathogenic/Likely pathogenic Waardenburg syndrome type 2E, without neurologic involvement
RS74315516 SOX10 Health Risk Pathogenic PCWH syndrome, PCWH syndrome
RS74315518 SOX10 Health Risk Pathogenic PCWH syndrome, PCWH syndrome
RS74315520 SOX10 Health Risk Pathogenic Waardenburg syndrome type 4C, Waardenburg syndrome type 2E
RS74315521 SOX10 Health Risk Pathogenic PCWH syndrome, PCWH syndrome
RS74315522 TBX1 Health Risk Pathogenic Velocardiofacial syndrome, Velocardiofacial syndrome
RS74316682 POR Health Risk Likely pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS74317435 DNAH7 Health Risk Conflicting classifications of pathogenicity DNAH7-related disorder, DNAH7-related disorder
RS74323799 CFHR5 Health Risk Conflicting classifications of pathogenicity CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
RS74323945 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS74324101 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS74339310 LRRCC1 Health Risk Conflicting classifications of pathogenicity —
RS74339576 KCNJ11 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS74341575 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 4
RS74346519 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, MEFV-related disorder
RS743546 FLNA Health Risk Conflicting classifications of pathogenicity Intestinal pseudoobstruction, neuronal
RS74358901 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Cardiovascular phenotype
RS74360232 SLC17A5 Health Risk Conflicting classifications of pathogenicity Salla disease, Sialic acid storage disease
RS74360487 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS74363455 TSC2 Health Risk Pathogenic —
RS74374973 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscle eye brain disease
RS74375534 KMT2E Health Risk Conflicting classifications of pathogenicity O'Donnell-Luria-Rodan syndrome, See cases
RS7437875 CFI Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome
RS74382477 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Hereditary spastic paraplegia
RS74384554 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS74385826 WDR35 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly
RS74396541 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS74405673 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary leiomyomatosis and renal cell cancer
RS74406856 MYH3 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
RS74407840 PLIN1 Health Risk Conflicting classifications of pathogenicity PLIN1-related familial partial lipodystrophy, Monogenic diabetes
RS74411086 PDE6B Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS74414989 ATP8B1 Health Risk Pathogenic —
RS74419361 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS7442295 SLC2A9 Health Risk association Uric acid concentration, serum
RS74423119 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
RS74424227 KCNE2 Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Cardiovascular phenotype
RS74426960 WASHC4 Health Risk Conflicting classifications of pathogenicity —
RS74428123 HADH Health Risk Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS74429712 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Neurodevelopmental disorder with poor language and loss of hand skills
RS74435397 EMG1 Health Risk Pathogenic Bowen-Conradi syndrome, Bowen-Conradi syndrome
RS74438152 ELP2 Health Risk Conflicting classifications of pathogenicity ELP2-related disorder, ELP2-related disorder
RS74451194 ERMARD Health Risk Conflicting classifications of pathogenicity ERMARD-related disorder, ERMARD-related disorder
RS74452732 GNRHR Health Risk Pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia
RS74458693 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Cervical cancer
RS74461100 TULP1 Health Risk Pathogenic TULP1-related disorder, Retinal dystrophy
RS74461721 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS74462309 KCNQ1 Health Risk Likely pathogenic Congenital long QT syndrome, Long QT syndrome
RS74462743 GBA1 Health Risk Pathogenic —
RS74463786 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS74467662 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS74469870 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS74470618 WDR35 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS74475415 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
RS74482326 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS74485751 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS74486266 BMP4 Health Risk Conflicting classifications of pathogenicity Microphthalmia with brain and digit anomalies, Orofacial cleft 11
RS74486803 PAH Health Risk Pathogenic Hyperphenylalaninemia, Phenylketonuria
RS74495140 BMP4 Health Risk Conflicting classifications of pathogenicity Orofacial cleft 11, Orofacial cleft 11
RS74499808 SETBP1 Health Risk Pathogenic/Likely pathogenic Schinzel-Giedion syndrome, SETBP1-related disorder
RS74500255 GBA1 Health Risk Pathogenic/Likely pathogenic Gaucher disease type I, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
RS74503222 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
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