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
RS764263034 LYZ Health Risk Conflicting classifications of pathogenicity Familial visceral amyloidosis, Ostertag type
RS764263517 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy
RS764264135 H3C1 Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS764264434 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764264834 HMGCL Health Risk Pathogenic Inborn genetic diseases, Deficiency of hydroxymethylglutaryl-CoA lyase
RS764265933 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS764266244 POMGNT1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS764266722 CHRNG Health Risk Pathogenic/Likely pathogenic Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome
RS764268036 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS764268346 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS764271022 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS764272139 SLC12A6 Health Risk Conflicting classifications of pathogenicity Agenesis of the corpus callosum with peripheral neuropathy, Inborn genetic diseases
RS764273304 ARG1 Health Risk Conflicting classifications of pathogenicity Arginase deficiency, Arginase deficiency
RS764273631 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS764274149 HOGA1 Health Risk Pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS764274816 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS764275222 CNTN2 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial adult myoclonic
RS764275775 TYMP Health Risk Pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS764275810 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS764276907 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS764276946 NDUFS8 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Leigh syndrome
RS764278381 CEP89 Health Risk Conflicting classifications of pathogenicity —
RS764278567 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS764279057 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS764279608 MYO18B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764279982 GARNL3 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS764280787 CARD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Severe combined immunodeficiency due to CARD11 deficiency
RS764281068 PPP1R12A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764282256 COL11A1 Health Risk Conflicting classifications of pathogenicity Marshall syndrome, Stickler syndrome type 2
RS764284379 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS764286389 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS764286950 PLA2G6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Parkinson disease 14, Autosomal recessive Parkinson disease 14
RS764287278 LRPPRC Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS764287987 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, POLG-related disorder
RS764288193 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS764288902 LRP5 Health Risk Conflicting classifications of pathogenicity 8 conditions, 8 conditions
RS764289504 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS764289801 DAG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS764290037 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS764290273 EGFR Health Risk Conflicting classifications of pathogenicity Hereditary cancer, EGFR-related lung cancer
RS764290955 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Central core myopathy
RS764291252 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS764291274 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS764292673 FBP1 Health Risk Pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS764292783 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS764292893 NBAS Health Risk Conflicting classifications of pathogenicity Infantile liver failure syndrome 2, Short stature-optic atrophy-Pelger-Huët anomaly syndrome
RS764296185 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS764296457 HPS5 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS764296800 ABCB11 Health Risk Likely pathogenic Cholestasis, intrahepatic
RS764296921 WDR19 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS764297134 HSPB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease axonal type 2F
RS764298283 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 8
RS764298491 RINT1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS764299277 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS764300456 HSD17B4 Health Risk Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS764301648 RASGRP2 Health Risk Pathogenic —
RS764301963 DENND5A Health Risk Likely pathogenic —
RS764301997 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS764303128 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS764303339 SLC12A3 Health Risk Pathogenic —
RS764304126 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS764305237 HMBS Health Risk Likely pathogenic —
RS764305873 COL27A1 Health Risk Pathogenic —
RS764306023 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS764306025 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS764306633 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS764307090 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764308612 PIP5K1C Health Risk Pathogenic —
RS764308870 POU4F3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15
RS764308981 SLC26A5 Health Risk Conflicting classifications of pathogenicity —
RS764309755 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS764310195 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS764311076 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS764311778 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS764311787 MOCS2 Health Risk Pathogenic —
RS764312409 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS764312466 EGF Health Risk Conflicting classifications of pathogenicity —
RS764313717 PYGM Health Risk Pathogenic/Likely pathogenic McArdle disease, mild
RS764313785 POLR3A Health Risk Likely pathogenic Leukodystrophy, hypomyelinating
RS764314231 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS764314276 TCOF1 Health Risk Likely pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS764314608 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS764314612 AGT Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis of genetic origin
RS764315978 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS764316153 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS764316702 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Inborn genetic diseases
RS764317955 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS764317969 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type A
RS764318570 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease
RS764319566 ERCC6 Health Risk Conflicting classifications of pathogenicity —
RS764320060 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1
RS764320767 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10
RS764321075 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS764321665 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS764322456 MITF Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A
RS764322898 ALPL Health Risk Likely pathogenic Infantile hypophosphatasia, ALPL-related disorder
RS764323391 TRAPPC12 Health Risk Pathogenic Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
RS764323652 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
RS764324827 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS764325655 SERPINA1 Health Risk Pathogenic/Likely pathogenic Alpha-1-antitrypsin deficiency, PI NULL(BOLTON)
« Prev 1 ... 3426 3427 3428 3429 3430 3431 3432 ... 4509 Next »

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

Get Started Free →