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
RS756198538 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Canavan Disease
RS756199090 TYRP1 Health Risk Pathogenic —
RS756199349 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
RS756201106 CFI Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 13, Atypical hemolytic-uremic syndrome with I factor anomaly
RS756201576 LRRIQ3 Health Risk Conflicting classifications of pathogenicity —
RS756202530 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS756203141 USH2A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS756203389 CSF2RA Health Risk Pathogenic Surfactant metabolism dysfunction, pulmonary
RS756203775 FRMD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756204684 MFSD8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Late-infantile neuronal ceroid lipofuscinosis
RS756204866 EXOSC2 Health Risk Likely pathogenic Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome, Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
RS756205069 AFG3L2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756205397 PYGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VI
RS756205995 CAPN1 Health Risk Pathogenic Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76
RS756206533 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS756206757 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS756206942 NDE1 Health Risk Pathogenic Lissencephaly 4, NDE1-related microhydranencephaly
RS756207677 CYFIP2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 65
RS756209187 APOB Health Risk Pathogenic/Likely pathogenic Hypobetalipoproteinemia, Familial hypobetalipoproteinemia 1
RS756209197 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS756209340 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Inborn genetic diseases
RS756209410 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS756209420 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS756210458 ADSL Health Risk Pathogenic/Likely pathogenic Severe global developmental delay, Difficulty standing
RS756211242 KAT8 Health Risk Likely pathogenic Li-Ghorbani-Weisz-Hubshman syndrome, Li-Ghorbani-Weisz-Hubshman syndrome
RS756211633 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS756212622 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS756213406 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A
RS756214140 TBL1XR1 Health Risk Conflicting classifications of pathogenicity Pierpont syndrome, Pierpont syndrome
RS756215705 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS756216163 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS756216318 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS756216566 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS756217590 COL7A1 Health Risk Pathogenic/Likely pathogenic Recessive dystrophic epidermolysis bullosa, Pretibial dystrophic epidermolysis bullosa
RS756217962 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 3
RS75621801 MTTP Health Risk Pathogenic —
RS756218448 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS756219310 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS756219617 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS756220860 ABCB11 Health Risk Conflicting classifications of pathogenicity Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS756221585 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS756221917 HERC2 Health Risk Pathogenic Developmental delay with autism spectrum disorder and gait instability, Developmental delay with autism spectrum disorder and gait instability
RS756221937 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS75622274 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
RS756223600 COL18A1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Knobloch syndrome 1
RS756224211 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS756225038 ZNF142 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with impaired speech and hyperkinetic movements, Inborn genetic diseases
RS756225250 ZIC2 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS756225251 GNPTG Health Risk Pathogenic GNPTG-mucolipidosis, Rod-cone dystrophy
RS756225459 TG Health Risk Pathogenic —
RS756225547 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS756225782 MMUT Health Risk Likely pathogenic —
RS756227025 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS756227982 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, COL3A1-related disorder
RS756228059 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS756229364 MERTK Health Risk Pathogenic Retinitis pigmentosa 38, Retinitis pigmentosa 38
RS756230327 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS756230727 CA4 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, CA4-related disorder
RS756231749 COL4A3 Health Risk Pathogenic Alport syndrome, Autosomal dominant Alport syndrome
RS756231829 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1D
RS756232002 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS756232510 TMPO Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS756232889 MC4R Health Risk Pathogenic Obesity, Obesity
RS756233241 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS756233245 MCM8 Health Risk Pathogenic —
RS756233808 DNAAF5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS756233978 OTOGL Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS756235051 GRK1 Health Risk Conflicting classifications of pathogenicity Oguchi disease-2, Retinal dystrophy
RS756235299 ETHE1 Health Risk Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS756235547 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS756236271 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS756236683 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS756236720 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS756236810 MYH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756236917 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS756237962 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS756238158 DMD Health Risk Conflicting classifications of pathogenicity Becker muscular dystrophy, Duchenne muscular dystrophy
RS756238324 PRKCSH Health Risk Likely pathogenic Polycystic liver disease 1, Polycystic liver disease 1
RS756238700 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS756238772 ALG13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS756239167 TK2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, myopathic form
RS756239195 CNGB1 Health Risk Likely pathogenic Retinitis pigmentosa 45, Retinitis pigmentosa 45
RS756239722 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
RS756239767 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cervical cancer
RS756242095 HPD Health Risk Conflicting classifications of pathogenicity Hawkinsinuria, Tyrosinemia type III
RS756243022 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS756243240 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS756244380 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS756246229 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
RS756247881 LONP1 Health Risk Conflicting classifications of pathogenicity CODAS syndrome, CODAS syndrome
RS756249036 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS756250205 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS756250298 RP1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS756250449 CTSK Health Risk Pathogenic Pyknodysostosis, Pyknodysostosis
RS756251613 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS756251887 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS756252214 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram syndrome 1, WFS1-related disorder
RS756252418 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS756252903 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS756254299 PHKA2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Inborn genetic diseases
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