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
RS375412223 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS375412266 MAPKAPK3 Health Risk Conflicting classifications of pathogenicity Patterned macular dystrophy 3, Patterned macular dystrophy 3
RS375412395 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS375413604 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS375414145 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS375414341 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS375415491 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS375415632 ADAMTS13 Health Risk Pathogenic/Likely pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS375415852 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS375416014 INVS Health Risk Pathogenic Nephronophthisis, Infantile nephronophthisis
RS375416292 SLC6A3 Health Risk Conflicting classifications of pathogenicity Parkinsonism-dystonia, infantile
RS375416303 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Senior-Loken syndrome 4
RS375416784 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS375417155 TTN Health Risk Conflicting classifications of pathogenicity —
RS375417370 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ARID1A-related disorder
RS375417798 FRAS1 Health Risk Conflicting classifications of pathogenicity FRAS1-related disorder, FRAS1-related disorder
RS375418118 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis 1
RS375419028 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS375420073 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS375420533 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS375421208 DNMT3A Health Risk Conflicting classifications of pathogenicity Tatton-Brown-Rahman overgrowth syndrome, DNMT3A-related disorder
RS375422404 F11 Health Risk Pathogenic/Likely pathogenic Hereditary factor XI deficiency disease, Plasma factor XI deficiency
RS375422843 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, RBP3-related disorder
RS375423568 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
RS375423906 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS375424103 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS375424292 TG Health Risk Pathogenic Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS375425015 FAT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375426113 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS375427974 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS375429200 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Inborn genetic diseases
RS375429385 LIPC Health Risk Conflicting classifications of pathogenicity —
RS375429939 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 4
RS375431219 JAG1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
RS375431575 POMGNT1 Health Risk Pathogenic/Likely pathogenic Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O
RS375431837 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease
RS375431906 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS375431948 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS375432782 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS375433525 SLC26A4 Health Risk Likely pathogenic —
RS375434317 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS375436277 CACNA1D Health Risk Conflicting classifications of pathogenicity —
RS375436597 DLL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375437551 ABCA12 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4B
RS375437745 MYO18B Health Risk Conflicting classifications of pathogenicity MYO18B-related disorder, Inborn genetic diseases
RS375437755 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS375438006 SATB1 Health Risk Likely pathogenic —
RS375438506 SGCB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2E, Qualitative or quantitative defects of beta-sarcoglycan
RS375438732 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS375439809 GRN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS375440055 ANTXR2 Health Risk Conflicting classifications of pathogenicity Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
RS375440170 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS375440229 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS375440874 SYN1 Health Risk Conflicting classifications of pathogenicity Epilepsy, X-linked 1
RS375440877 TMEM127 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS3754413 ITPKB Health Risk Conflicting classifications of pathogenicity Myeloproliferative neoplasm, unclassifiable
RS3754415 ITPKB Health Risk Conflicting classifications of pathogenicity Myeloproliferative neoplasm, unclassifiable
RS375442124 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS375442243 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS375442860 TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS375443061 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS375444057 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS375444144 MPDZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375444239 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Baller-Gerold syndrome
RS375444767 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS375444839 FOLR1 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Inborn genetic diseases
RS375444880 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS375445058 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS375445567 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Hereditary spastic paraplegia
RS375445813 SLC12A1 Health Risk Pathogenic —
RS375446476 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS375447060 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS375447430 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SAMD9L-related disorder
RS375447438 TNNI3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 7, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
RS375448469 COL2A1 Health Risk Pathogenic/Likely pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS375448572 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS375450242 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Inborn genetic diseases
RS375450454 ACTG1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
RS375450688 PGM1 Health Risk Conflicting classifications of pathogenicity PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS375450996 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, COL4A4-related disorder
RS375451560 JUP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 12
RS375451955 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS375452881 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS375454098 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS375454176 TDRKH Health Risk Conflicting classifications of pathogenicity Distal spinal muscular atrophy, Distal spinal muscular atrophy
RS375454834 QARS1 Health Risk Conflicting classifications of pathogenicity Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS375455536 ARHGEF10 Health Risk Conflicting classifications of pathogenicity —
RS375455794 GFPT1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
RS375456811 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS375457812 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS375459176 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS375459388 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS375459428 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS375459615 SMARCA4 Health Risk Likely pathogenic —
RS375459662 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases
RS375459945 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS375459972 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS375461837 GABRB3 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS375462083 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS375462836 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
« Prev 1 ... 2746 2747 2748 2749 2750 2751 2752 ... 4509 Next »

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

Get Started Free →