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
RS752305132 PKHD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS752307253 SRD5A3 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation
RS752308380 XDH Health Risk Conflicting classifications of pathogenicity Hereditary xanthinuria type 1, Xanthinuria type II
RS752309409 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS752309744 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS752309888 NOS3 Health Risk Likely pathogenic Premature ovarian failure, Premature ovarian failure
RS752310721 MYO7A Health Risk Likely pathogenic —
RS752311257 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752311383 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS752311616 STAR Health Risk Pathogenic/Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS752311867 NEFH Health Risk Conflicting classifications of pathogenicity NEFH-related disorder, Inborn genetic diseases
RS752312466 TSFM Health Risk Conflicting classifications of pathogenicity Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS752312589 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS752313464 VSX2 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 2, Microphthalmia
RS752314023 NEXMIF Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability, Cantagrel type
RS752314078 L2HGDH Health Risk Likely pathogenic L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS752315498 CRYBB1 Health Risk Likely pathogenic Cataract 17 multiple types, Cataract 17 multiple types
RS752316853 TMEM126B Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 1
RS752317640 DYNC2H1 Health Risk Likely pathogenic —
RS752317877 HADHA Health Risk Conflicting classifications of pathogenicity Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Inborn genetic diseases
RS752317971 COL17A1 Health Risk Pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS752318318 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS752318420 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS752318455 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS752318477 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS752320467 BCORL1 Health Risk Conflicting classifications of pathogenicity —
RS752321936 SYN1 Health Risk Conflicting classifications of pathogenicity Epilepsy, X-linked 1
RS752322954 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Prostate cancer
RS752323868 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ANKRD26-related disorder
RS752326108 CSPP1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 21, Joubert syndrome 21
RS752326328 PAX7 Health Risk Pathogenic Myopathy, congenital
RS752326983 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752327099 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS752327566 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS752328639 C3 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly
RS752328965 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Inborn genetic diseases
RS752329473 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS752330549 CYP27B1 Health Risk Pathogenic —
RS752331004 CELA2A Health Risk Pathogenic Coronary artery disorder, Diabetes
RS752331196 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS752331636 SPEG Health Risk Conflicting classifications of pathogenicity —
RS752332058 DMD Health Risk Conflicting classifications of pathogenicity Primary familial dilated cardiomyopathy, Duchenne muscular dystrophy
RS752334385 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 26
RS752334462 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS752334619 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS752334702 COL5A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Ehlers-Danlos syndrome
RS752334972 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS752335467 SLC34A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SLC34A3-related disorder
RS752337579 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752337704 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS752337969 IDUA Health Risk Conflicting classifications of pathogenicity Hurler syndrome, Mucopolysaccharidosis type 1
RS752338222 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS752339132 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS752339162 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS752339466 LIG4 Health Risk Pathogenic/Likely pathogenic DNA ligase IV deficiency, Multiple myeloma
RS752339681 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Breast and/or ovarian cancer
RS752339705 CPS1 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, neonatal
RS752341132 MED17 Health Risk Conflicting classifications of pathogenicity Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
RS752342634 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Retinal dystrophy
RS752343321 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS752343394 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, MTTP-related disorder
RS75234356 RET Health Risk Pathogenic Multiple endocrine neoplasia type 2A, Familial medullary thyroid carcinoma
RS752344007 TYR Health Risk Pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS752344739 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS752345245 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS752346360 PGAP2 Health Risk Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3
RS752346893 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS752346924 COL4A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752347538 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS752348839 ODAD2 Health Risk Pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS752349182 MEF2C Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS752349556 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS752349623 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS752349680 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS752349961 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Congenital microvillous atrophy
RS75235010 SLC12A6 Health Risk Conflicting classifications of pathogenicity Agenesis of the corpus callosum with peripheral neuropathy, Inborn genetic diseases
RS752351454 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS752351789 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS752351863 RAD51 Health Risk Conflicting classifications of pathogenicity —
RS752351930 SPTLC2 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS752352624 DIP2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752352896 GDAP2 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive 27
RS752353097 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS752354290 WWOX Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 28
RS752354633 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS752356218 ALPL Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Infantile hypophosphatasia
RS752356523 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS752356781 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Usher syndrome type 1F
RS752356873 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS752358009 TYRP1 Health Risk Conflicting classifications of pathogenicity Nonsyndromic Oculocutaneous Albinism, Oculocutaneous albinism type 3
RS752358032 SON Health Risk Conflicting classifications of pathogenicity ZTTK syndrome, ZTTK syndrome
RS752358445 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Primary familial dilated cardiomyopathy
RS752358589 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Cardiovascular phenotype
RS752359125 VPS13D Health Risk Likely pathogenic Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
RS752359931 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Inborn genetic diseases
RS752360082 ADAT3 Health Risk Likely pathogenic Intellectual disability-strabismus syndrome, Intellectual disability-strabismus syndrome
RS752360378 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cholestanol storage disease
RS752360687 CD55 Health Risk Likely pathogenic Cromer blood group system, Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
RS752360850 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS752360866 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
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