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
RS778469146 ERCC2 Health Risk Pathogenic —
RS778469367 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS778470053 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778470143 EMC1 Health Risk Pathogenic/Likely pathogenic Global developmental delay, Cerebellar atrophy
RS778471926 KIAA0753 Health Risk Pathogenic —
RS778472114 NIPA1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 6, Hereditary spastic paraplegia
RS778472603 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS778473220 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal dominant
RS778473524 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Primary dilated cardiomyopathy
RS778473713 ECM1 Health Risk Likely pathogenic Lipid proteinosis, Lipid proteinosis
RS778474394 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A3-related disorder
RS778475094 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS778476070 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS778478048 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS778478085 PEX16 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS778478432 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C
RS778479139 SLC52A3 Health Risk Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1
RS778479250 ERCC2 Health Risk Pathogenic Trichothiodystrophy 1, photosensitive
RS778480440 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS778480531 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS778480809 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS778481061 PIGP Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 55
RS778481307 DPM3 Health Risk Pathogenic DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation
RS778481357 OPN1SW Health Risk Conflicting classifications of pathogenicity —
RS778481503 AFG2B Health Risk Pathogenic Neurodevelopmental disorder with hearing loss and spasticity, Neurodevelopmental disorder with hearing loss and spasticity
RS778482303 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS778482902 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS778484639 PIEZO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778484981 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS778485688 CLCNKB Health Risk Pathogenic —
RS778487068 COL6A3 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS778487856 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS778488574 DCAF17 Health Risk Pathogenic/Likely pathogenic Woodhouse-Sakati syndrome, Neurodegeneration with brain iron accumulation
RS778488721 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS778489951 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS778490238 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS778490429 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS778491124 MAST1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778491829 BCS1L Health Risk Pathogenic —
RS778491977 ALG1 Health Risk Likely pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS778492524 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS778493729 AOPEP Health Risk Pathogenic Dystonia 31, Dystonia 31
RS778494781 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS778496291 BAG3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1HH
RS778496417 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS778497200 GNAT1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 3, Congenital stationary night blindness 1G
RS778497800 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS778498254 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS778499309 HARS2 Health Risk Likely pathogenic Perrault syndrome 2, Perrault syndrome 2
RS778500897 HPS5 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS778501298 WNK4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778501455 AKT1 Health Risk Conflicting classifications of pathogenicity Cowden syndrome 6, Cowden syndrome 6
RS778501724 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS778501777 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS778502240 SLC35A3 Health Risk Pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS778503063 MESP2 Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 2, autosomal recessive
RS778503152 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS778503301 EHMT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kleefstra syndrome 1
RS778503467 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS778504182 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS778504757 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS778505668 YIPF5 Health Risk Pathogenic Microcephaly, epilepsy
RS778506459 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS778507028 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, See cases
RS778507942 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS778507965 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS77850827 LAMA5 Health Risk Conflicting classifications of pathogenicity LAMA5-related disorder, Inborn genetic diseases
RS778509860 BBS7 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS7-related disorder
RS778510648 PDGFRA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
RS778511525 FASN Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS778513184 NF2 Health Risk Conflicting classifications of pathogenicity —
RS778513540 GJB6 Health Risk Conflicting classifications of pathogenicity Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1B
RS778514103 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS778514296 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS778514407 SSC5D Health Risk Conflicting classifications of pathogenicity —
RS778515113 TPO Health Risk Pathogenic Neurodevelopmental disorder, Deficiency of iodide peroxidase
RS778515935 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS778516841 LOXL3 Health Risk Conflicting classifications of pathogenicity —
RS778516851 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS778516878 SDHA Health Risk Pathogenic/Likely pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS778518669 C9 Health Risk Pathogenic/Likely pathogenic Complement component 9 deficiency, Complement component 9 deficiency
RS778519094 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Macular degeneration
RS778519921 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS778521296 ZNF462 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778522733 LMF1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS778523464 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS778523544 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS778524098 LIG4 Health Risk Conflicting classifications of pathogenicity DNA ligase IV deficiency, DNA ligase IV deficiency
RS778525532 LZTR1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS778525768 CTC1 Health Risk Pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1, Cerebroretinal microangiopathy with calcifications and cysts 1
RS778527358 TMEM38B Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 14, Osteogenesis imperfecta type 14
RS778528329 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS778530330 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS778530618 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS778530750 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778531080 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS778531268 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder
RS77853132 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS778531326 PIGT Health Risk Pathogenic/Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3
RS778533826 RPGRIP1L Health Risk Pathogenic Joubert syndrome 7, Joubert syndrome
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