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
RS574108233 LRP4 Health Risk Conflicting classifications of pathogenicity Sclerosteosis 2, Cenani-Lenz syndactyly syndrome
RS574115531 SZT2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 18
RS574127091 STX11 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 4, Inborn genetic diseases
RS574127323 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS574130239 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS574130689 DNMT3A Health Risk Pathogenic 6 conditions, Tatton-Brown-Rahman overgrowth syndrome
RS574132278 HADH Health Risk Uncertain significance/Uncertain risk allele Hyperinsulinemic hypoglycemia, Hyperinsulinemic hypoglycemia
RS574132670 MTHFR Health Risk Pathogenic/Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS574134304 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS574135903 CHRNA1 Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Congenital myasthenic syndrome
RS574141489 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS574146967 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS574154912 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS574167621 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Infantile cortical hyperostosis
RS574168097 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Charcot-Marie-Tooth disease type 2
RS574179816 FOXF1 Health Risk Conflicting classifications of pathogenicity Alveolar capillary dysplasia with pulmonary venous misalignment, FOXF1-related disorder
RS574182225 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS574183358 PIGT Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 3, Paroxysmal nocturnal hemoglobinuria 2
RS574194648 DEAF1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 24
RS57419521 KRT81 Health Risk Pathogenic Monilethrix-2, Monilethrix-2
RS574196558 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS574196735 SETBP1 Health Risk Conflicting classifications of pathogenicity Schinzel-Giedion syndrome, Schinzel-Giedion syndrome
RS574202419 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS574204412 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Inborn genetic diseases
RS574205203 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS574205422 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS574205552 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS574213477 MTMR2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS574218913 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS574224822 IL11RA Health Risk Pathogenic Craniosynostosis and dental anomalies, Craniosynostosis and dental anomalies
RS574228980 HERC2 Health Risk Conflicting classifications of pathogenicity —
RS574229174 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS574230328 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS574231443 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS574232846 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Legius syndrome
RS574234110 HPS3 Health Risk Conflicting classifications of pathogenicity —
RS57424749 KRT16 Health Risk Pathogenic Pachyonychia congenita 1, Pachyonychia congenita 1
RS574256155 MDH2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 51
RS574256598 MSRB3 Health Risk Conflicting classifications of pathogenicity —
RS574271678 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS574272317 ERCC6 Health Risk Conflicting classifications of pathogenicity 7 conditions, 7 conditions
RS574277214 OTOF Health Risk Conflicting classifications of pathogenicity —
RS5742904 APOB Health Risk Likely pathogenic Hypercholesterolemia, familial
RS5742905 CBS Health Risk Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS5742907 CETP Health Risk Pathogenic/Likely pathogenic Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1
RS574290806 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, Cardiovascular phenotype
RS574304021 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Inborn genetic diseases
RS574313741 TTN Health Risk Conflicting classifications of pathogenicity —
RS574318440 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS574321120 KCNQ1 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS574326650 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS5743269 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS574326920 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS5743271 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS5743275 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS5743277 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS574328488 ASPA Health Risk Conflicting classifications of pathogenicity Spongy degeneration of central nervous system, Inborn genetic diseases
RS5743289 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Yao syndrome
RS574331101 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS574333116 BLOC1S6 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 9, Inborn genetic diseases
RS574335012 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS574338716 FAS Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS5743392 CTNNB1 Health Risk Conflicting classifications of pathogenicity CTNNB1-related disorder, CTNNB1-related disorder
RS574343583 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS574349599 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, JAG1-related disorder
RS574353697 SUOX Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS5743542 BPI Health Risk Conflicting classifications of pathogenicity —
RS574357386 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS574358605 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS574359460 EPB42 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS574361328 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS574361484 HR Health Risk Conflicting classifications of pathogenicity Alopecia universalis congenita, Atrichia with papular lesions
RS574363219 APOA5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS574365163 LOXL3 Health Risk Conflicting classifications of pathogenicity Stickler syndrome, LOXL3-related disorder
RS574370139 CYP21A2 Health Risk Conflicting classifications of pathogenicity ADRENAL HYPERPLASIA, CONGENITAL
RS574370336 STAT3 Health Risk Conflicting classifications of pathogenicity Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS5743708 TLR2 Health Risk risk factor Mycobacterium tuberculosis, susceptibility to
RS574371474 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS574376340 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS574379856 PLK4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS574391322 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, MSH6-related disorder
RS574402576 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS574402639 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS574416705 CD36 Health Risk Likely pathogenic Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
RS574417789 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS574420969 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS574430009 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS574432879 MAOA Health Risk Conflicting classifications of pathogenicity Brunner syndrome, Inborn genetic diseases
RS574433291 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS57443665 ACADS Health Risk Pathogenic/Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Inborn genetic diseases
RS574450870 IFT140 Health Risk Likely pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS574450911 XRCC1 Health Risk Likely pathogenic Spinocerebellar ataxia, autosomal recessive 26
RS574458765 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS574472338 BMP1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 13, Osteogenesis imperfecta
RS5744739 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder
RS574474794 FGFR2 Health Risk Conflicting classifications of pathogenicity Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome
RS5744760 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS574478833 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS5744799 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS5744800 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
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