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
RS397989794 GFI1B Health Risk Pathogenic Platelet-type bleeding disorder 17, Platelet-type bleeding disorder 17
RS398122360 HOXA2 Health Risk Pathogenic MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT, MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT
RS398122361 DSE Health Risk Pathogenic Ehlers-Danlos syndrome, musculocontractural type 2
RS398122363 CARD9 Health Risk Pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS398122364 CARD9 Health Risk risk factor Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS398122365 MTRFR Health Risk Likely pathogenic Hereditary spastic paraplegia 55, Hereditary spastic paraplegia 55
RS398122366 TTI2 Health Risk Pathogenic Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome, Inborn genetic diseases
RS398122367 TTI2 Health Risk Pathogenic Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome, Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
RS398122368 SMARCB1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 15
RS398122369 TUBB2B Health Risk Pathogenic Complex cortical dysplasia with other brain malformations 7, Lissencephaly
RS398122370 PRNP Health Risk Pathogenic Inherited Creutzfeldt-Jakob disease, Inherited Creutzfeldt-Jakob disease
RS398122372 ITGB3 Health Risk Pathogenic Bleeding disorder, platelet-type
RS398122373 ITGB3 Health Risk Pathogenic Bleeding disorder, platelet-type
RS398122375 PRRX1 Health Risk Pathogenic Agnathia-otocephaly complex, Agnathia-otocephaly complex
RS398122377 HOXC13 Health Risk Pathogenic Ectodermal dysplasia 9, hair/nail type
RS398122378 MIP Health Risk Pathogenic/Likely pathogenic Cataract 15 multiple types, MIP-related disorder
RS398122379 HK1 Health Risk Pathogenic Hemolytic anemia due to hexokinase deficiency, Hemolytic anemia due to hexokinase deficiency
RS398122380 VLDLR Health Risk Pathogenic Cerebellar ataxia, intellectual disability
RS398122381 TCF12 Health Risk Pathogenic TCF12-related craniosynostosis, TCF12-related craniosynostosis
RS398122382 B4GALNT1 Health Risk Pathogenic Hereditary spastic paraplegia 26, Spastic paraplegia
RS398122383 PTPRC Health Risk Pathogenic Immunodeficiency 105, Immunodeficiency 105
RS398122384 PIK3R1 Health Risk Pathogenic SHORT syndrome, SHORT syndrome
RS398122385 PIK3R1 Health Risk Pathogenic SHORT syndrome, SHORT syndrome
RS398122386 POLD1 Health Risk Pathogenic Mandibular hypoplasia-deafness-progeroid syndrome, Hereditary cancer-predisposing syndrome
RS398122387 CNTN2 Health Risk Pathogenic Epilepsy, familial adult myoclonic
RS398122388 UMOD Health Risk Pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS398122389 RPSA Health Risk Pathogenic Familial isolated congenital asplenia, Familial isolated congenital asplenia
RS398122390 HDAC6 Health Risk Pathogenic X-linked dominant chondrodysplasia, Chassaing-Lacombe type
RS398122391 COL18A1 Health Risk Pathogenic Knobloch syndrome, Retinitis pigmentosa
RS398122392 CRYGC Health Risk Pathogenic/Likely pathogenic Cataract 2, multiple types
RS398122393 TAC3 Health Risk Pathogenic Hypogonadotropic hypogonadism 10 with or without anosmia, Hypogonadotropic hypogonadism 10 with or without anosmia
RS398122394 ALG13 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 36
RS398122395 SLC20A2 Health Risk Pathogenic SLC20A2-related disorder, Idiopathic basal ganglia calcification 1
RS398122396 SLC20A2 Health Risk Pathogenic SLC20A2-related disorder, Idiopathic basal ganglia calcification 1
RS398122397 SLC20A2 Health Risk Pathogenic/Likely pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS398122398 PDGFB Health Risk Pathogenic Basal ganglia calcification, idiopathic
RS398122399 PDGFB Health Risk Pathogenic Basal ganglia calcification, idiopathic
RS398122400 DSG1 Health Risk Pathogenic Severe dermatitis-multiple allergies-metabolic wasting syndrome, Severe dermatitis-multiple allergies-metabolic wasting syndrome
RS398122401 CFAP298 Health Risk Pathogenic Primary ciliary dyskinesia 26, Primary ciliary dyskinesia 26
RS398122402 GATA4 Health Risk Pathogenic Testicular anomalies with or without congenital heart disease, Testicular anomalies with or without congenital heart disease
RS398122403 SYNJ1 Health Risk Pathogenic Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy
RS398122404 DNAJC6 Health Risk Pathogenic Juvenile onset Parkinson disease 19A, Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
RS398122405 DNAJC6 Health Risk Pathogenic Juvenile onset Parkinson disease 19A, Juvenile onset Parkinson disease 19A
RS398122406 ZBTB18 Health Risk Pathogenic Intellectual disability, autosomal dominant 22
RS398122407 VPS33B Health Risk Pathogenic/Likely pathogenic Arthrogryposis, renal dysfunction
RS398122408 VPS33B Health Risk Pathogenic Arthrogryposis, renal dysfunction
RS398122409 C19orf12 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 4, Neurodegeneration with brain iron accumulation
RS398122410 ERMARD Health Risk Pathogenic Periventricular nodular heterotopia 6, Periventricular nodular heterotopia 6
RS398122412 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS398122414 PRNP Health Risk Likely pathogenic CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
RS398122415 MAGEL2 Health Risk Pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS398122416 MAGEL2 Health Risk Pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS398122417 MAGEL2 Health Risk Pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS398122418 MAGEL2 Health Risk Pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS398122419 MTO1 Health Risk Pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS398122513 BAX Health Risk Pathogenic T-cell acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemia
RS398122514 FLT3 Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS398122515 POLE Health Risk Conflicting classifications of pathogenicity Facial dysmorphism-immunodeficiency-livedo-short stature syndrome, Hereditary cancer-predisposing syndrome
RS398122516 POU3F4 Health Risk Pathogenic X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher
RS398122517 POU3F4 Health Risk Pathogenic X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher
RS398122518 SERPINF1 Health Risk Pathogenic Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS398122519 SERPINF1 Health Risk Pathogenic Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS398122520 SERPINF1 Health Risk Pathogenic Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS398122521 FLNA Health Risk Pathogenic CONGENITAL SHORT BOWEL SYNDROME, X-LINKED
RS398122522 PRLR Health Risk Pathogenic Familial hyperprolactinemia, Familial hyperprolactinemia
RS398122523 ARFGEF2 Health Risk Pathogenic Periventricular heterotopia with microcephaly, autosomal recessive
RS398122524 SLC35A3 Health Risk Pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS398122525 RHO Health Risk Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS398122527 DLX5 Health Risk Pathogenic Split hand-foot malformation 1, Split hand-foot malformation 1
RS398122528 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS398122530 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS398122531 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS398122532 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS398122533 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS398122534 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS398122535 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS398122536 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS398122538 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS398122539 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS398122541 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS398122542 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS398122544 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS398122545 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS398122546 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS398122547 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS398122548 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS398122549 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS398122550 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS398122551 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS398122552 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS398122554 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS398122555 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS398122556 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS398122557 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS398122558 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS398122559 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS398122560 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS398122561 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS398122564 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS398122565 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
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