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
RS757556640 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS757556996 PRKAG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Lethal congenital glycogen storage disease of heart
RS757557272 ABCA4 Health Risk Pathogenic Retinal dystrophy, Cone-rod dystrophy 3
RS757558416 PDX1 Health Risk Uncertain risk allele Pancreatic hypoplasia, Pancreatic hypoplasia
RS757559168 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfocysteinuria
RS757559365 OPTN Health Risk Pathogenic Primary open angle glaucoma, Glaucoma 1
RS757559474 POLE Health Risk Conflicting classifications of pathogenicity Carcinoma of colon, Hereditary cancer-predisposing syndrome
RS757559806 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS757560062 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS757560169 ADGRV1 Health Risk Likely pathogenic Idiopathic generalized epilepsy, Idiopathic generalized epilepsy
RS757560526 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS757562094 ASXL1 Health Risk Conflicting classifications of pathogenicity —
RS757563721 MTMR2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS757563981 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS757565418 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS757566117 ACBD6 Health Risk Pathogenic Neurodevelopmental disorder with progressive movement abnormalities, Neurodevelopmental disorder with progressive movement abnormalities
RS757566490 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS757567225 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group D2
RS757567429 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS757567654 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS757568270 RELN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Norman-Roberts syndrome
RS757569345 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS757569691 HPS3 Health Risk Likely pathogenic —
RS757569717 TUFM Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 4, Combined oxidative phosphorylation defect type 4
RS757570230 CD36 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
RS757570584 EVC2 Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS757571398 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS757571550 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS757574487 SMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cornelia de Lange syndrome 3
RS757574546 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS757574720 GNPTAB Health Risk Pathogenic/Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS757575448 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS757575602 CENPF Health Risk Pathogenic Stromme syndrome, Stromme syndrome
RS757575787 ATR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757575874 ACY1 Health Risk Conflicting classifications of pathogenicity Aminoacylase 1 deficiency, Aminoacylase 1 deficiency
RS757576013 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS757576125 LMNB1 Health Risk Conflicting classifications of pathogenicity Adult-onset autosomal dominant demyelinating leukodystrophy, Microcephaly 26
RS757576159 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS757576348 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS757576841 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS757577112 TPM1 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy
RS757577162 PCNT Health Risk Pathogenic/Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS757577323 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS757577670 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS757577741 ASH1L Health Risk Pathogenic Intellectual disability, autosomal dominant 52
RS757578045 FANCF Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS757578262 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS757578685 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS757579310 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS757579341 DDX11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757579833 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Inborn genetic diseases
RS757579891 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS757581909 GNPTG Health Risk Pathogenic —
RS757583061 TWNK Health Risk Likely pathogenic Auditory neuropathy, Auditory neuropathy
RS757583515 DHTKD1 Health Risk Likely pathogenic DHTKD1-related disorder, DHTKD1-related disorder
RS757583846 PROC Health Risk Pathogenic/Likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS757583944 KCNQ3 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS757584252 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS757585091 ACTN1 Health Risk Conflicting classifications of pathogenicity —
RS757585784 CAD Health Risk Likely pathogenic Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
RS757586383 NF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS757588621 ARX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS757588716 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757589247 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS757589473 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS757589571 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS757589705 FGD1 Health Risk Conflicting classifications of pathogenicity —
RS757590541 TTN Health Risk Conflicting classifications of pathogenicity —
RS757590581 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS757591029 NSD1 Health Risk Conflicting classifications of pathogenicity —
RS757591797 RAF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Noonan syndrome and Noonan-related syndrome
RS757593086 CPT1A Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase 1A deficiency, Inborn genetic diseases
RS757593576 CSTB Health Risk Conflicting classifications of pathogenicity Unverricht-Lundborg syndrome, Progressive myoclonic epilepsy
RS757594906 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS757597315 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
RS757598882 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS757598952 ICOS Health Risk Likely pathogenic Immunodeficiency, common variable
RS757600041 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Charcot-Marie-Tooth disease
RS757600616 WARS2 Health Risk Likely pathogenic WARS2-related disorder, Neurodevelopmental disorder
RS757600961 DST Health Risk Likely pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS757601640 DNAH17 Health Risk Likely pathogenic DNAH17-related disorder, DNAH17-related disorder
RS757601923 EZH2 Health Risk Conflicting classifications of pathogenicity Weaver syndrome, Weaver syndrome
RS757602412 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS757602565 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS757603372 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, Inborn genetic diseases
RS757603460 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS757603534 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS757604577 NDE1 Health Risk Pathogenic Lissencephaly 4, Lissencephaly 4
RS757604614 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS757605574 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS757605946 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS757606065 AICDA Health Risk Pathogenic Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
RS757606682 ENO3 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency
RS757606922 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS757607352 STXBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS757607501 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS757608100 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS757608461 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757608620 GAA Health Risk Pathogenic —
RS757609119 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
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