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
RS1227923469 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1227963459 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1227986180 SYNJ1 Health Risk Pathogenic Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy
RS1227989495 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1228018976 COL2A1 Health Risk Pathogenic —
RS1228027865 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1228068212 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS1228071168 AGK Health Risk Pathogenic/Likely pathogenic Sengers syndrome, Cataract 38
RS1228072399 CYP4V2 Health Risk Pathogenic —
RS1228073295 SLC38A8 Health Risk Pathogenic/Likely pathogenic Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
RS1228082731 CPLANE1 Health Risk Pathogenic —
RS1228095903 ZNF469 Health Risk Pathogenic —
RS1228099402 CEP120 Health Risk Pathogenic Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly
RS1228100817 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1228132046 CDH23 Health Risk Pathogenic —
RS1228163648 COL7A1 Health Risk Pathogenic —
RS1228165704 TERT Health Risk Conflicting classifications of pathogenicity 7 conditions, Dyskeratosis congenita
RS1228192276 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, NOTCH1-related disorder
RS1228194239 FUS Health Risk Pathogenic Juvenile amyotrophic lateral sclerosis, Juvenile amyotrophic lateral sclerosis
RS1228221272 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1228223508 FIG4 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1228227826 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS1228228638 ITGA6 Health Risk Pathogenic —
RS1228231249 DTHD1 Health Risk Conflicting classifications of pathogenicity —
RS1228238442 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1228267111 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Inborn genetic diseases
RS1228270049 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1228273365 SLC26A3 Health Risk Conflicting classifications of pathogenicity —
RS1228279248 DLL4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1228287579 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1228297663 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS1228319313 EXPH5 Health Risk Pathogenic Epidermolysis bullosa simplex 4, localized or generalized intermediate
RS1228330473 RUSC2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 61
RS1228352007 ADGRV1 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS1228359983 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1228361094 RFX5 Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS1228369630 ITGB4 Health Risk Pathogenic —
RS1228389182 MTTP Health Risk Pathogenic/Likely pathogenic Abetalipoproteinaemia, Metabolic syndrome X
RS1228392408 TRIOBP Health Risk Pathogenic —
RS1228394297 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1228394826 ERCC6 Health Risk Pathogenic —
RS1228395356 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1228403814 TNNT2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1D, Cardiomyopathy
RS1228406418 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1228413559 CDH23 Health Risk Pathogenic —
RS1228453160 ADGRV1 Health Risk Likely pathogenic —
RS1228463747 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS1228475082 EYS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 25
RS1228511377 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1228519738 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1228522943 OTOG Health Risk Pathogenic —
RS1228531384 IL6ST Health Risk Pathogenic —
RS1228535558 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS1228558469 RP1 Health Risk Pathogenic/Likely pathogenic —
RS1228560456 SDHB Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 4
RS1228568835 RDH12 Health Risk Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS1228572300 CSF1R Health Risk Pathogenic —
RS1228590199 PAX3 Health Risk Pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS1228608709 FBXO7 Health Risk Pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS1228610692 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1228615020 TRIM32 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1228645269 CCIN Health Risk Pathogenic Spermatogenic failure 91, Spermatogenic failure 91
RS1228664222 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS1228677393 ITGA7 Health Risk Pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS1228690395 TMPRSS15 Health Risk Pathogenic —
RS1228731181 TMEM67 Health Risk Likely pathogenic TMEM67-related disorder, TMEM67-related disorder
RS1228731722 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome, Retinitis pigmentosa 74
RS1228732568 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1228746935 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1228754923 C2 Health Risk Likely pathogenic —
RS1228762581 BRCA2 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS1228768873 ACADSB Health Risk Likely pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS1228771607 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1228783766 SACS Health Risk Pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1228790204 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1228791562 UMOD Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS1228813196 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1228817029 PPIB Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS1228873579 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS1228886763 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group C, Fanconi anemia
RS1228888866 MTOR Health Risk Conflicting classifications of pathogenicity —
RS1228889026 MRPS34 Health Risk Likely pathogenic —
RS1228919836 ERCC6 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS1228929788 RUSC2 Health Risk Pathogenic —
RS1228953213 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1228953847 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS1228958177 SEPSECS Health Risk Pathogenic —
RS1228963839 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1228965900 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS1228966267 TNFRSF1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TNF receptor-associated periodic fever syndrome (TRAPS)
RS1228971728 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1228972002 C8A Health Risk Pathogenic —
RS1228972723 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1228981894 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS1229015450 BBS9 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome
RS1229022696 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1229048705 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS1229054489 COQ8A Health Risk Pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS1229066957 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS1229070290 TECTA Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
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