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
RS754824872 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS754825865 SLC34A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS754826643 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS754826836 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Adult hypophosphatasia
RS754828592 SNAPC4 Health Risk Pathogenic Neurodevelopmental disorder with motor regression, progressive spastic paraplegia
RS754828716 BRAT1 Health Risk Likely pathogenic BRAT1-related neurodevelopmental disorder, BRAT1-related neurodevelopmental disorder
RS754828996 TAP1 Health Risk Conflicting classifications of pathogenicity MHC class I deficiency, Inborn genetic diseases
RS754831415 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS754831666 CACNA1S Health Risk Conflicting classifications of pathogenicity —
RS754832163 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS754833774 CELSR1 Health Risk Likely pathogenic Lymphatic malformation 9, Lymphatic malformation 9
RS754833969 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS754834155 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2, Retinitis pigmentosa 39
RS754834213 STRC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754834282 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS754834466 CASQ2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia
RS754836509 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS754836679 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS754837473 SRD5A3 Health Risk Conflicting classifications of pathogenicity SRD5A3-congenital disorder of glycosylation, Kahrizi syndrome
RS754837805 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS754838493 DICER1 Health Risk Likely pathogenic Pleuropulmonary blastoma, DICER1-related tumor predisposition
RS754840728 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS754841982 BLOC1S3 Health Risk Pathogenic Hermansky-Pudlak syndrome 8, Hermansky-Pudlak syndrome 8
RS754842280 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS754843093 COL5A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS754844175 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS754847234 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS754847515 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS754848195 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases
RS754848781 POLR1C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754848806 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS754849177 TYRP1 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 3, Oculocutaneous albinism type 3
RS754850404 FANCE Health Risk Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS754850670 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS754851037 CFI Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 13, Atypical hemolytic-uremic syndrome with I factor anomaly
RS754851778 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS75485205 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS754853149 ZBTB20 Health Risk Conflicting classifications of pathogenicity Primrose syndrome, Inborn genetic diseases
RS754853545 ADH5 Health Risk Pathogenic AMED syndrome, digenic
RS754854319 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS754854640 SLC11A2 Health Risk Conflicting classifications of pathogenicity Microcytic anemia with liver iron overload, SLC11A2-related disorder
RS754855090 LRPPRC Health Risk Pathogenic/Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS754855261 CC2D1A Health Risk Conflicting classifications of pathogenicity —
RS754855677 PUS1 Health Risk Pathogenic/Likely pathogenic Myopathy, lactic acidosis
RS754857276 BCAS3 Health Risk Pathogenic/Likely pathogenic Global developmental delay, Hengel-Maroofian-Schols syndrome
RS754858452 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 10, Primary ciliary dyskinesia
RS754858849 SNRNP200 Health Risk Conflicting classifications of pathogenicity —
RS754858999 GPC6 Health Risk Conflicting classifications of pathogenicity —
RS754859097 MYLK Health Risk Conflicting classifications of pathogenicity Megacystis-microcolon-intestinal hypoperistalsis syndrome 1, Aortic aneurysm
RS754859909 MPL Health Risk Pathogenic MPL-related disorder, Congenital amegakaryocytic thrombocytopenia
RS754861502 ILDR2 Health Risk Likely pathogenic Moyamoya angiopathy, Moyamoya angiopathy
RS754861924 KPTN Health Risk Pathogenic Macrocephaly-developmental delay syndrome, Macrocephaly-developmental delay syndrome
RS754862360 NPHP4 Health Risk Pathogenic Nephronophthisis 4, Nephronophthisis
RS754862849 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Knobloch syndrome
RS754862975 DYNC2I2 Health Risk Pathogenic Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
RS754863582 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS754864849 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS754865266 MYO15A Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS754865465 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS754866098 ENPP1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic rickets, autosomal recessive
RS754866489 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS754867753 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS754869116 FLNB Health Risk Conflicting classifications of pathogenicity Boomerang dysplasia, Boomerang dysplasia
RS754869199 RNF43 Health Risk Conflicting classifications of pathogenicity —
RS754870679 TRIO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754871147 SLC25A20 Health Risk Conflicting classifications of pathogenicity Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS754872251 SETD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS75487328 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1A
RS754873418 NDUFV2 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 7
RS754873937 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS754874209 SNORD118 Health Risk Pathogenic Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
RS754875934 HGSNAT Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 73, Mucopolysaccharidosis
RS754876029 CDH23 Health Risk Pathogenic Retinal dystrophy, Usher syndrome type 1D
RS754878801 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS754878991 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Familial hemiplegic migraine
RS754879198 MSH6 Health Risk Conflicting classifications of pathogenicity Endometrial carcinoma, Hereditary cancer-predisposing syndrome
RS754880269 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS754880999 CDH2 Health Risk Pathogenic Axon pathfinding, cardiac
RS754881125 QRSL1 Health Risk Likely pathogenic —
RS754881644 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754882266 UNC13D Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS754882710 PDLIM3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy
RS754883449 TRNT1 Health Risk Pathogenic/Likely pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Retinitis pigmentosa and erythrocytic microcytosis
RS754883697 OTOG Health Risk Conflicting classifications of pathogenicity —
RS754883792 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS754884110 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS754884716 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS754885040 ARSL Health Risk Likely pathogenic —
RS754885213 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS754885396 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS754885672 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS75488587 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS754886335 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS754886562 DLL3 Health Risk Likely pathogenic —
RS754888145 POC1B Health Risk Likely pathogenic —
RS754888410 GPD1L Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS754888606 DOCK6 Health Risk Likely pathogenic —
RS754889043 WASHC5 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS754889480 ANO5 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS754890755 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 4
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