SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1114167388 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
RS1114167389 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1114167390 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type I
RS1114167391 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1114167392 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta
RS1114167394 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1114167395 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1114167396 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1114167398 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1114167399 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1114167400 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1114167401 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1114167402 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS1114167403 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS1114167405 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1114167406 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1114167407 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1114167408 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
RS1114167409 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
RS1114167410 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1114167411 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1114167412 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
RS1114167414 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
RS1114167415 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
RS1114167416 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
RS1114167417 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1114167418 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1114167419 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Cardiovascular phenotype
RS1114167422 DKC1 Health Risk Likely pathogenic Dyskeratosis congenita, X-linked
RS1114167423 APTX Health Risk Pathogenic Ataxia, early-onset
RS1114167424 SULT2B1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Ichthyosis
RS1114167425 SULT2B1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Ichthyosis
RS1114167426 SULT2B1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Ichthyosis
RS1114167427 CRYBA4 Health Risk Pathogenic Cataract 23, Cataract 23
RS1114167428 SLC2A2 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS1114167429 PPP1CB Health Risk Likely pathogenic Noonan syndrome-like disorder with loose anagen hair 2, RASopathy
RS1114167430 CD55 Health Risk Pathogenic Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome, Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
RS1114167431 GNAO1 Health Risk Likely pathogenic Neurodevelopmental disorder with involuntary movements, Developmental and epileptic encephalopathy
RS1114167433 CRYBB1 Health Risk Pathogenic Cataract 17 multiple types, Cataract 17 multiple types
RS1114167435 MLH1 Health Risk Pathogenic Colon cancer, Hereditary nonpolyposis colorectal neoplasms
RS1114167437 DMD Health Risk Likely pathogenic Elevated circulating creatine kinase concentration, Elevated circulating creatine kinase concentration
RS1114167438 ALPL Health Risk Conflicting classifications of pathogenicity Decreased circulating alkaline phosphatase activity, Hypophosphatasia
RS1114167439 DMD Health Risk Likely pathogenic Elevated circulating creatine kinase concentration, Elevated circulating creatine kinase concentration
RS1114167441 NONO Health Risk Pathogenic Syndromic X-linked intellectual disability 34, Syndromic X-linked intellectual disability 34
RS1114167442 PSMD12 Health Risk Pathogenic Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome
RS1114167443 PSMD12 Health Risk Pathogenic Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome
RS1114167444 PSMD12 Health Risk Pathogenic Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome
RS1114167445 SPTBN4 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, neuropathy
RS1114167447 ARMC9 Health Risk Conflicting classifications of pathogenicity ARMC9-related Joubert syndrome, Joubert syndrome
RS1114167448 ARMC9 Health Risk Pathogenic/Likely pathogenic ARMC9-related Joubert syndrome, Joubert syndrome 30
RS1114167449 ARMC9 Health Risk Pathogenic/Likely pathogenic ARMC9-related Joubert syndrome, Joubert syndrome 30
RS1114167450 KDSR Health Risk Pathogenic Erythrokeratodermia variabilis et progressiva 4, Erythrokeratodermia variabilis et progressiva 4
RS1114167451 KDSR Health Risk Pathogenic Erythrokeratodermia variabilis et progressiva 4, Erythrokeratodermia variabilis et progressiva 4
RS1114167452 KDSR Health Risk Pathogenic Erythrokeratodermia variabilis et progressiva 4, Erythrokeratodermia variabilis et progressiva 4
RS1114167453 PPP1R13L Health Risk Pathogenic Cardio-cutaneous syndrome, Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities
RS1114167454 ARHGEF2 Health Risk Pathogenic Neurodevelopmental disorder with midbrain and hindbrain malformations, Neurodevelopmental disorder with midbrain and hindbrain malformations
RS1114167455 SMOC1 Health Risk Pathogenic Microphthalmia with limb anomalies, Microphthalmia with limb anomalies
RS1114167456 APC Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1114167457 PLAA Health Risk Pathogenic Neurodevelopmental disorder with progressive microcephaly, spasticity
RS1114167459 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1114167460 TSC2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1114167461 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1114167462 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1114167463 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1114167464 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1114167465 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1114167466 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Melanoma
RS1114167468 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1114167469 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1114167470 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1114167471 MEN1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1114167472 MEN1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1114167473 MEN1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1114167476 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1114167477 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1114167478 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1114167480 MEN1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1114167481 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1114167482 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1114167483 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1114167485 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1114167486 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1114167488 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1114167489 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1114167490 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1114167491 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1114167492 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1114167493 MEN1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1114167494 MEN1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1114167495 MEN1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1114167496 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1114167497 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1114167498 MEN1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1114167499 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1114167500 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1114167501 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1114167502 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1114167503 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1114167505 MEN1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1114167506 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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