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
RS746756510 NBAS Health Risk Pathogenic —
RS746756997 GALNS Health Risk Pathogenic Inborn genetic diseases, Mucopolysaccharidosis
RS746757469 HARS2 Health Risk Likely pathogenic —
RS746758186 SLC26A3 Health Risk Pathogenic Congenital secretory diarrhea, chloride type
RS746761404 FAT4 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS746762030 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS746762111 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS746762359 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS746762473 LAMA2 Health Risk Pathogenic —
RS746763506 FKTN Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS746764220 RUBCN Health Risk Likely pathogenic Spinocerebellar ataxia type 15/16, Spinocerebellar ataxia type 15/16
RS746764862 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, PRPF8-related disorder
RS746764976 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, See cases
RS746765362 LAMB2 Health Risk Pathogenic/Likely pathogenic Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS746765465 THRA Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS746765533 NPRL3 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS746765869 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS746766232 GLB1 Health Risk Pathogenic/Likely pathogenic GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis
RS746766318 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS746766617 IDUA Health Risk Pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS746766677 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS746766787 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS746769666 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS746770543 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS746770617 MYH2 Health Risk Pathogenic Myopathy, proximal
RS746770705 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Inborn genetic diseases
RS746772122 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS746773616 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS746775716 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS1-related disorder
RS746776254 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS746776892 HOGA1 Health Risk Pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS746777092 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS746778765 GFM1 Health Risk Pathogenic —
RS746779107 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746779770 ATP2A1 Health Risk Conflicting classifications of pathogenicity Brody myopathy, Inborn genetic diseases
RS746780708 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS746781620 DTNBP1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS746781699 GPD1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS746782115 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS746782348 OTOGL Health Risk Pathogenic/Likely pathogenic —
RS746782404 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome 1, Joubert syndrome
RS746782582 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS746782589 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS746784282 CELSR1 Health Risk Conflicting classifications of pathogenicity Mild to moderate NDD, Mild to moderate NDD
RS746785436 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, Muscular dystrophy
RS746785505 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS746787047 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS746787698 ABCC6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum
RS746787955 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS746790849 CACNA1A Health Risk Pathogenic/Likely pathogenic Episodic ataxia type 2, CACNA1A-related disorder
RS746792129 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS746792200 FAT4 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS746792907 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS746794574 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS746795177 ERCC2 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group D
RS746795369 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Familial hemiplegic migraine
RS746795974 CEP152 Health Risk Likely pathogenic —
RS746796894 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS746797123 BBS9 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome
RS746797808 STX3 Health Risk Conflicting classifications of pathogenicity Diarrhea 12, with microvillus atrophy
RS746798986 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome 4
RS746799355 GAN Health Risk Conflicting classifications of pathogenicity Giant axonal neuropathy 1, Inborn genetic diseases
RS746800397 LRP5 Health Risk Conflicting classifications of pathogenicity —
RS746800707 AAR2 Health Risk Likely pathogenic 8 conditions, 8 conditions
RS746801054 SHOX Health Risk Pathogenic Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis
RS746803006 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS746806459 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS746806941 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS746807446 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS746807833 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS746808159 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS746808951 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS746809573 AGPAT2 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1
RS746809883 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS746809939 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS746811167 SYNJ1 Health Risk Conflicting classifications of pathogenicity Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy
RS746813123 WNT10A Health Risk Likely pathogenic Tooth agenesis, selective
RS746813353 CYP17A1 Health Risk Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS746813506 HPS6 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS746815510 POMC Health Risk Pathogenic Inborn genetic diseases, POMC-related disorder
RS746817140 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS746817480 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS746818109 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS746818112 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746818113 CTH Health Risk Pathogenic/Likely pathogenic Cystathioninuria, Cystathioninuria
RS746820022 PDE6C Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS746821851 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS746822140 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS746822265 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS746822330 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS746822837 NLRC4 Health Risk Conflicting classifications of pathogenicity Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4
RS746823238 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS746823852 RP1 Health Risk Pathogenic —
RS746824139 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS746824207 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS746824252 XPA Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS746824716 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS746824729 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS746826852 TRIM37 Health Risk Conflicting classifications of pathogenicity Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS746827368 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
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