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
RS766635681 RTTN Health Risk Pathogenic/Likely pathogenic Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS766636946 GPR101 Health Risk Conflicting classifications of pathogenicity —
RS766638714 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS766640370 MUSK Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS766640976 DBH Health Risk Pathogenic Orthostatic hypotension 1, Orthostatic hypotension 1
RS766641715 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS766642440 ERF Health Risk Conflicting classifications of pathogenicity TWIST1-related craniosynostosis, Inborn genetic diseases
RS766642839 AARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS766642997 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS766643065 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS766643335 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS766643461 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS766644829 CTC1 Health Risk Likely pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita
RS766645192 DOLK Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS766646086 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS766646217 GUCY2D Health Risk Likely pathogenic Retinal dystrophy, Cone-rod dystrophy 6
RS766646261 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS766646786 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS766646831 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS766647628 DHTKD1 Health Risk Likely pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS766648368 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS766648383 HMGCL Health Risk Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS766648827 POMT1 Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K
RS766652186 ERCC4 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS766652435 HPS5 Health Risk Likely pathogenic —
RS766653635 TUBGCP6 Health Risk Pathogenic —
RS766653950 DCTN1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 1, Neuronopathy
RS766656419 ALPL Health Risk Pathogenic/Likely pathogenic Decreased circulating alkaline phosphatase activity, Hypophosphatasia
RS766656463 SDHD Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cowden syndrome 3
RS766656583 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS766656843 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Familial cancer of breast
RS766656844 GAD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766656997 HADH Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS766657138 ERCC3 Health Risk Pathogenic —
RS766657227 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS766657292 DST Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS766657895 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS766658650 KCNJ11 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS766660415 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS766661019 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS766662586 DNAI2 Health Risk Likely pathogenic Primary ciliary dyskinesia 9, Primary ciliary dyskinesia 9
RS766662645 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766663693 DYNC2I1 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly
RS766664389 BBS4 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 4, Bardet-Biedl syndrome
RS766664800 MESP2 Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 2, autosomal recessive
RS766665064 BBS4 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS766665093 TELO2 Health Risk Pathogenic TELO2-related intellectual disability-neurodevelopmental disorder, TELO2-related intellectual disability-neurodevelopmental disorder
RS766665118 MC4R Health Risk Conflicting classifications of pathogenicity Obesity, autosomal dominant
RS766665783 C2 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 14, Complement component 2 deficiency
RS766666014 IGHG2 Health Risk Pathogenic Decreased circulating IgG2 concentration, Decreased circulating IgG2 concentration
RS766666230 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS766666529 SUFU Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS766667009 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency
RS766667249 PIGQ Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS766668548 HYDIN Health Risk Likely pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS766668875 COL9A3 Health Risk Pathogenic —
RS766668907 PNPO Health Risk Conflicting classifications of pathogenicity Pyridoxal phosphate-responsive seizures, Inborn genetic diseases
RS766670248 CEP290 Health Risk Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS766670643 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS76667066 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS766670791 GANAB Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 3 with or without polycystic liver disease, Colon adenocarcinoma
RS766670862 SLC12A3 Health Risk Pathogenic —
RS766671758 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS766672143 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS766672514 ETFA Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS766672853 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS766673431 WFS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766673446 PROP1 Health Risk Pathogenic/Likely pathogenic Pituitary hormone deficiency, combined
RS766674210 RP1 Health Risk Pathogenic —
RS766674440 SLC4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant distal renal tubular acidosis, Hemolytic anemia
RS766675673 RLBP1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS766675875 TTPA Health Risk Pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS766676234 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Melanoma-pancreatic cancer syndrome
RS766680001 CHD4 Health Risk Conflicting classifications of pathogenicity CHD4-related disorder, Cleft palate
RS766680292 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS766681033 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS766683691 FOXP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766684128 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Baller-Gerold syndrome
RS76668544 SLC26A2 Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia
RS766688301 HECW2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766688797 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766689587 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS766690218 MKRN3 Health Risk Likely pathogenic MKRN3-related disorder, MKRN3-related disorder
RS766690741 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS766692577 TBX20 Health Risk Pathogenic/Likely pathogenic Aortic valve disease 1, Atrial septal defect 4
RS766692725 PROS1 Health Risk Pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS766692914 SLC35D1 Health Risk Likely pathogenic Schneckenbecken dysplasia, Schneckenbecken dysplasia
RS766694151 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS766694176 VPS13A Health Risk Pathogenic —
RS766697775 SETD1A Health Risk Conflicting classifications of pathogenicity —
RS766699868 CPLANE1 Health Risk Pathogenic Orofaciodigital syndrome type 6, Joubert syndrome 17
RS766700803 MYO6 Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 22, Autosomal dominant nonsyndromic hearing loss 22
RS766701326 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS766701632 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS766701687 TECPR2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 49, Inborn genetic diseases
RS766701871 CEP250 Health Risk Conflicting classifications of pathogenicity —
RS766701971 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS766703340 PDE6C Health Risk Likely pathogenic Achromatopsia, Achromatopsia
RS766703715 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS766704202 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
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