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
RS754391375 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS754391973 PCDH15 Health Risk Pathogenic Usher syndrome type 1D, Usher syndrome type 1F
RS754392413 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS754392766 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS754395517 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS754396326 NPAT Health Risk Conflicting classifications of pathogenicity —
RS754396803 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rubinstein-Taybi syndrome
RS754398043 IFT80 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2
RS754398271 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS754398374 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS754398956 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal recessive Alport syndrome
RS754400631 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS754400702 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS754400742 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS754401816 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS754402855 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS754403242 IDH3B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS754403441 FKRP Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS754404446 DNM1 Health Risk Likely pathogenic —
RS754404501 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS754404879 RCOR1 Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS754404940 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS754405067 NEU1 Health Risk Pathogenic Sialidosis, Sialidosis
RS754405810 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS754407540 RCBTB1 Health Risk Pathogenic —
RS754407762 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS754410028 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS754411056 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS754411271 OPA1 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type), Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
RS754411636 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS754413772 RAG2 Health Risk Likely pathogenic Histiocytic medullary reticulosis, Recombinase activating gene 2 deficiency
RS754414354 BCS1L Health Risk Conflicting classifications of pathogenicity Pili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1
RS754414489 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS754414954 BCS1L Health Risk Pathogenic/Likely pathogenic Pili torti-deafness syndrome, GRACILE syndrome
RS754415474 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS754415797 EIF2B3 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with vanishing white matter 3, Leukoencephalopathy with vanishing white matter 3
RS754415994 SGCG Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS754416243 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS754417848 SOX9 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Camptomelic dysplasia
RS754417953 ROGDI Health Risk Likely pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS754418186 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS754418509 EP300 Health Risk Pathogenic/Likely pathogenic —
RS754419297 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS754420100 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS754420169 ZAP70 Health Risk Pathogenic Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
RS754420448 KRT4 Health Risk Conflicting classifications of pathogenicity White sponge nevus 1, Inborn genetic diseases
RS754422011 IGHMBP2 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS754422604 CARD11 Health Risk Conflicting classifications of pathogenicity BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
RS754422982 NEU1 Health Risk Conflicting classifications of pathogenicity Sialidosis type 2, Sialidosis type 2
RS754423238 APOC2 Health Risk Pathogenic/Likely pathogenic Familial apolipoprotein C-II deficiency, Familial apolipoprotein C-II deficiency
RS754423972 ATL1 Health Risk Pathogenic —
RS754424986 FERMT1 Health Risk Conflicting classifications of pathogenicity Kindler syndrome, Kindler syndrome
RS754425809 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS754426793 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Inflammatory skin and bowel disease
RS754428005 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS754428110 ZNF462 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754428438 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS754429038 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS754429372 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS754431996 GUCY2D Health Risk Likely pathogenic —
RS754433044 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Inborn genetic diseases
RS754433289 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS754435236 GFM1 Health Risk Likely pathogenic —
RS754436306 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS754436560 SLC25A15 Health Risk Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS754437318 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, DYNC1H1-related neuronopathy
RS754437551 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS754438818 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS754439135 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS754439156 ALMS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Alstrom syndrome
RS754439528 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS754439905 TNXB Health Risk Conflicting classifications of pathogenicity 7 conditions, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS754440141 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
RS754440220 SGSM3 Health Risk Likely pathogenic SGSM3-related intellectual disability, INTELLECTUAL DEVELOPMENTAL DISORDER
RS754441026 OTOF Health Risk Likely pathogenic —
RS75444177 PAX8 Health Risk Conflicting classifications of pathogenicity Hypothyroidism, congenital
RS754443484 ETFA Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS754443525 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS754443945 GSDME Health Risk Conflicting classifications of pathogenicity —
RS754444529 CTCF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754444882 FAH Health Risk Pathogenic/Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS754446530 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Charcot-Marie-Tooth disease axonal type 2O
RS754446573 STUB1 Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia 48, Autosomal recessive spinocerebellar ataxia 16
RS754447060 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS754447923 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS754448417 NDUFS6 Health Risk Conflicting classifications of pathogenicity —
RS754448484 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS754448530 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS754449549 ALDH7A1 Health Risk Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy, Inborn genetic diseases
RS754449807 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS754450238 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS754451064 ADAMTS15 Health Risk Pathogenic Arthrogryposis, distal
RS754451657 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS754451905 WAC Health Risk Pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS754452211 SP110 Health Risk Pathogenic/Likely pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Mycobacterium tuberculosis
RS754453234 PDE6B Health Risk Pathogenic —
RS7544538 CENPF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CENPF-related disorder
RS754454113 PDE6G Health Risk Pathogenic —
RS754455433 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS754457018 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Isolated focal cortical dysplasia type II
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