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
RS553500083 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Timothy syndrome
RS553503699 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, Inborn genetic diseases
RS553507775 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Hearing impairment
RS553507944 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Seckel syndrome 1
RS553512431 SETX Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive
RS553516014 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, DYNC2H1-related disorder
RS553516665 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS553520141 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS553522118 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS553526525 TTN Health Risk Pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS553534988 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS553537150 VWF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS553539918 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS553542677 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS553547069 TP53RK Health Risk Conflicting classifications of pathogenicity Global developmental delay, Seizure
RS553548392 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS553555866 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS553561553 FOXI1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, FOXI1-related disorder
RS553562104 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS553570769 EYA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1J, Autosomal dominant nonsyndromic hearing loss 10
RS553571469 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS553573861 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS553583384 COL9A3 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS553583507 FOXN1 Health Risk Conflicting classifications of pathogenicity T-cell immunodeficiency, congenital alopecia
RS553584258 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS553593355 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS553602736 GUCY2D Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS553605812 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS553609380 PYCR1 Health Risk Conflicting classifications of pathogenicity Cutis laxa, Cutis laxa
RS553619980 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS553620421 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS553625749 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Developmental and epileptic encephalopathy 111
RS553634958 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS553635114 CLDN19 Health Risk Likely pathogenic Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement
RS553647459 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS553649904 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS553663121 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Porencephaly 2
RS553665584 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP3-related disorder
RS553666754 POLRMT Health Risk Conflicting classifications of pathogenicity —
RS553667435 TRIP4 Health Risk Pathogenic —
RS553668 ADRA2A Health Risk Pathogenic Lipodystrophy, familial partial
RS553668520 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS553669430 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS553672320 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS553673947 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Nonpapillary renal cell carcinoma
RS553696163 NEXN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS553697188 ELP2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 58
RS553704245 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS553707049 CYP11B1 Health Risk Conflicting classifications of pathogenicity Glucocorticoid-remediable aldosteronism, Deficiency of steroid 11-beta-monooxygenase
RS553716308 RIGI Health Risk Conflicting classifications of pathogenicity —
RS553716559 MPV17 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease
RS553718554 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Autoinflammatory syndrome
RS553730391 ACADSB Health Risk Pathogenic/Likely pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS553730922 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS553733225 SKIC2 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS553739117 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS553739434 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS553746345 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus
RS553750741 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS553752236 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS553752644 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS553754986 TEX14 Health Risk Pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS553769637 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS553776104 ABCA4 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS553780090 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS553783914 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS553784643 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS553786370 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS553790960 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS553794194 HPS6 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS553796385 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS553799602 FGFR1 Health Risk Conflicting classifications of pathogenicity Osteoglophonic dysplasia, Trigonocephaly 1
RS553800160 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS553805862 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS553819263 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS553821887 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS553833861 USH2A Health Risk Pathogenic —
RS553837106 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS553840761 EYS Health Risk Conflicting classifications of pathogenicity Autosomal recessive retinitis pigmentosa, Inborn genetic diseases
RS553849595 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS553861183 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS553862782 MBTPS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS553876460 DLL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS553878240 MYH14 Health Risk Conflicting classifications of pathogenicity —
RS553883583 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, CP-related disorder
RS553885469 HSPG2 Health Risk Conflicting classifications of pathogenicity HSPG2-related disorder, HSPG2-related disorder
RS553896639 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS553904081 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Osteopetrosis
RS553904559 OTOF Health Risk Conflicting classifications of pathogenicity —
RS553909579 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS553909597 AGK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cataract 38
RS553934414 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Hyperplastic polyposis syndrome
RS553942147 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS553943791 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS553943831 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS553945164 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS553950608 DOHH Health Risk Conflicting classifications of pathogenicity DOHH related neurodevelopmental disorder, Neurodevelopmental disorder with microcephaly
RS553950644 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Sick sinus syndrome 2
RS553951049 NBAS Health Risk Conflicting classifications of pathogenicity Infantile liver failure syndrome 2, Inborn genetic diseases
RS553956503 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome, USH2A-related disorder
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