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
RS768030115 DUOX2 Health Risk Conflicting classifications of pathogenicity —
RS768030553 KIF7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Acrocallosal syndrome
RS768030732 SLCO2A1 Health Risk Pathogenic/Likely pathogenic Hypertrophic osteoarthropathy, primary
RS768031015 MMP2 Health Risk Conflicting classifications of pathogenicity Multicentric osteolysis nodulosis arthropathy spectrum, Multicentric osteolysis nodulosis arthropathy spectrum
RS768034418 GLI3 Health Risk Conflicting classifications of pathogenicity Polysyndactyly 4, Polydactyly
RS768034745 ENPP1 Health Risk Conflicting classifications of pathogenicity Arterial calcification, generalized
RS768035707 ADGRV1 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2C, Febrile seizures
RS768035751 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS768036084 WDPCP Health Risk Likely pathogenic WDPCP-related disorder, WDPCP-related disorder
RS768036242 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS768036305 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS768036751 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS768037080 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Inborn genetic diseases
RS768037558 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS768039033 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS768042560 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS768043175 FASTKD2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS768043933 HNF4A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS768044718 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS768045509 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS768045701 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS768046010 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS768047511 CYP1B1 Health Risk Likely pathogenic Glaucoma 3A, Anterior segment dysgenesis 6
RS768048172 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS768048286 GCKR Health Risk Conflicting classifications of pathogenicity —
RS768048535 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS768048553 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, Inborn genetic diseases
RS768048563 CACNA1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS768049331 TRDN Health Risk Pathogenic/Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 5, Cardiovascular phenotype
RS768049902 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS768050261 NDUFV1 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 4
RS768050320 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS768052470 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS768053120 ALPL Health Risk Likely pathogenic Childhood hypophosphatasia, Hypophosphatasia
RS768053145 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS768053349 PRG4 Health Risk Pathogenic/Likely pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS768053395 TTC7A Health Risk Conflicting classifications of pathogenicity Multiple gastrointestinal atresias, Multiple gastrointestinal atresias
RS768053422 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS768054411 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS768054802 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS768055345 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS768055690 COL18A1 Health Risk Pathogenic Knobloch syndrome 1, Knobloch syndrome 1
RS768055962 ESCO2 Health Risk Pathogenic/Likely pathogenic Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome
RS768056300 PRKACB Health Risk Pathogenic Cardioacrofacial dysplasia 2, Cardioacrofacial dysplasia 2
RS768057574 ALMS1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Alstrom syndrome
RS768057735 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS768057796 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS768058962 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS768059215 NFKB1 Health Risk Likely pathogenic —
RS768060090 NUP107 Health Risk Likely pathogenic NUP107-related disorder, NUP107-related disorder
RS768061156 GABRG2 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS768061704 CARD11 Health Risk Conflicting classifications of pathogenicity BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
RS768061933 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, EP300-related disorder
RS768062052 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS768062289 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS768062696 USH2A Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2A
RS768063119 PHKA2 Health Risk Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS768063378 POMGNT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (limb-girdle), type C
RS768063536 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS768063812 PIGQ Health Risk Conflicting classifications of pathogenicity Epilepsy, Epilepsy
RS768063841 GLRB Health Risk Pathogenic Hyperekplexia 2, Hyperekplexia 2
RS768063881 C19orf12 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 4, Hereditary spastic paraplegia 43
RS768064875 ASNS Health Risk Conflicting classifications of pathogenicity —
RS768064912 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS768065164 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS768065757 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9
RS768066139 ERCC6L2 Health Risk Pathogenic —
RS768066753 MEFV Health Risk Likely pathogenic Autoinflammatory syndrome, Autoinflammatory syndrome
RS768068589 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS768068601 SKI Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome
RS768070268 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS768070717 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS768071555 DONSON Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Microcephaly-micromelia syndrome
RS768072239 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases
RS768073096 FBN2 Health Risk Conflicting classifications of pathogenicity Macular degeneration, early-onset
RS768073167 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS768073446 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS768073845 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS768074196 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768074428 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS768075127 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS768075445 PIK3R2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
RS768075744 HYCC1 Health Risk Conflicting classifications of pathogenicity Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract
RS768075911 DHDDS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 59
RS768076848 HARS1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3B, Usher syndrome type 3B
RS768077366 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Inborn genetic diseases
RS768077989 DNA2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA deletion syndrome with progressive myopathy, Mitochondrial DNA deletion syndrome with progressive myopathy
RS768078771 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS768079285 NEBL Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS768082423 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS768082694 WDR19 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS768083289 FANCG Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS768083517 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS768085434 PMP22 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS768085739 DEAF1 Health Risk Conflicting classifications of pathogenicity —
RS768086755 GNAT2 Health Risk Pathogenic —
RS768088337 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS768089106 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, See cases
RS768090063 TTLL5 Health Risk Pathogenic —
RS768090444 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
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