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
RS199500014 TGM6 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35, Spinocerebellar ataxia type 35
RS199500256 TMEM237 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 14, Joubert syndrome 14
RS199501185 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy
RS199501232 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS199501657 ANO5 Health Risk Pathogenic/Likely pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS199501842 COL12A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS199502137 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS199502742 MTOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199503029 GNAT2 Health Risk Conflicting classifications of pathogenicity Achromatopsia 4, Achromatopsia 4
RS199503269 ABCA12 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 4B, Lamellar ichthyosis
RS199503393 ANO3 Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Inborn genetic diseases
RS199503535 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS199503571 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS199503603 ASPM Health Risk Conflicting classifications of pathogenicity Autosomal recessive primary microcephaly, Microcephaly 5
RS199503617 MXRA5 Health Risk Conflicting classifications of pathogenicity —
RS199504043 COG8 Health Risk Conflicting classifications of pathogenicity COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation
RS199504105 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS199504211 POLR3B Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 7 with or without anosmia, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS199504304 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS199504381 NDUFAF3 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS199504524 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS199504782 SLC24A1 Health Risk Conflicting classifications of pathogenicity —
RS199504845 ABCB4 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 3, Cholestasis
RS199505104 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199505156 G6PC1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, G6PC1-related disorder
RS199505265 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Alagille syndrome due to a JAG1 point mutation
RS199505287 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS199505318 EPB42 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS199505416 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS199505541 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS199505558 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS199506146 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS199506378 NPHS2 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 2
RS199506676 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary dilated cardiomyopathy
RS199507468 MUSK Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS199507543 F5 Health Risk Conflicting classifications of pathogenicity Budd-Chiari syndrome, Factor V deficiency
RS199507912 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS199507913 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS199507985 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS199508062 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS199508525 FTCD;FTCD-AS1 Health Risk Conflicting classifications of pathogenicity Glutamate formiminotransferase deficiency, FTCD-AS1-related disorder
RS199508694 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Inborn genetic diseases
RS199508773 CHRND Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
RS199508919 GLYCTK Health Risk Conflicting classifications of pathogenicity —
RS199509115 CAPN5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199509259 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS199509734 AHDC1 Health Risk Conflicting classifications of pathogenicity AHDC1-related disorder, Inborn genetic diseases
RS199509943 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS199510126 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS199510198 GBA2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS199510509 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS199510538 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group B, VACTERL association
RS199510546 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS199510610 TXNRD2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS199510686 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS199510721 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Gastric cancer
RS199511076 RD3 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 12, Leber congenital amaurosis 12
RS199511221 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS199511487 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS199511589 WWOX Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy
RS199511948 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, COL4A4-related disorder
RS199511990 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS199512049 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS199512216 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS199512932 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS199513044 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS199513213 MYH3 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
RS199513326 UBR1 Health Risk Conflicting classifications of pathogenicity —
RS199514043 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal dominant Alport syndrome
RS199514372 COL1A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
RS199514391 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS199514514 CPOX Health Risk Conflicting classifications of pathogenicity Hereditary coproporphyria, Hereditary coproporphyria
RS199514789 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS199514829 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS199514898 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS199514987 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS199515520 GPX4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199515722 IFNAR1 Health Risk Conflicting classifications of pathogenicity —
RS199515730 PEX11B Health Risk Likely pathogenic —
RS199515839 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS199516167 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS199516562 SLITRK6 Health Risk Conflicting classifications of pathogenicity SLITRK6-related disorder, SLITRK6-related disorder
RS199516699 CANT1 Health Risk Conflicting classifications of pathogenicity Desbuquois dysplasia 1, Desbuquois dysplasia 1
RS199517042 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Lymphangiomyomatosis
RS199517389 SDHD Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Carney-Stratakis syndrome
RS199517408 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS199517594 AFG2A Health Risk Conflicting classifications of pathogenicity Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Inborn genetic diseases
RS199517662 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS199517715 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, Inborn genetic diseases
RS199517800 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS199518658 HPS6 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS199518750 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Inborn genetic diseases
RS199520053 MYH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199520071 ZNF513 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS199520186 DLAT Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E2 deficiency, Leigh syndrome
RS199520255 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, MYO15A-related disorder
RS199520651 SLC18A3 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 21, Congenital myasthenic syndrome 21
RS199520703 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199520788 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS199521106 PDE6B Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
« Prev 1 ... 1382 1383 1384 1385 1386 1387 1388 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →