SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS878921943 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS878924546 MYH9 Health Risk Pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS878925198 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS878926127 PKP4 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Autism spectrum disorder
RS878936700 PPIB Health Risk Likely pathogenic —
RS878939010 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS878940028 GEMIN4 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, cataracts
RS878944571 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
RS878947834 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS878959417 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS878960699 CTNNB1 Health Risk Likely pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS878962653 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS878962682 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS878971586 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS878975068 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS878976124 CBL Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, Noonan syndrome and Noonan-related syndrome
RS878977270 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS878978808 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sarcoma
RS878982061 MED12L Health Risk Likely pathogenic Nizon-Isidor syndrome, Nizon-Isidor syndrome
RS878982215 SQSTM1 Health Risk Conflicting classifications of pathogenicity Paget disease of bone 3, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
RS878982457 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS878983012 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS878983731 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS878991431 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS879000172 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS879006486 MSH3 Health Risk Likely pathogenic Endometrial carcinoma, Endometrial carcinoma
RS879008268 ITGA7 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS879010418 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS879021764 AR Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Ovarian cancer
RS879030954 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS879036238 ARF1 Health Risk Pathogenic Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8
RS879038670 TALDO1 Health Risk Likely pathogenic —
RS879038684 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS879050352 SCN5A Health Risk Likely pathogenic Brugada syndrome, Brugada syndrome
RS879054303 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS879057314 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS879058545 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS879060159 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS879070866 MAGEC1 Health Risk Conflicting classifications of pathogenicity —
RS879082842 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS879087983 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS879091553 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS879092890 HNF4A Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 1
RS879097896 TTN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Primary dilated cardiomyopathy
RS879099244 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS879103814 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS879110456 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS879110681 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS879111128 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS879111430 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS879114460 SCN5A Health Risk Likely pathogenic Brugada syndrome, Brugada syndrome
RS879116657 PSAP Health Risk Pathogenic Combined PSAP deficiency, Combined PSAP deficiency
RS879119970 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy
RS879126335 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS879133727 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS879139686 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS879147040 PRKCSH Health Risk Likely pathogenic Autosomal dominant polycystic liver disease, Polycystic liver disease 1
RS879153644 GDF5 Health Risk Pathogenic —
RS879162705 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS879181418 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome
RS879192388 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS879192998 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Baller-Gerold syndrome
RS879195935 PAFAH1B1 Health Risk Likely pathogenic —
RS879204059 TTN Health Risk Conflicting classifications of pathogenicity —
RS879213218 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS879216710 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Inborn genetic diseases
RS879216922 LOXHD1 Health Risk Pathogenic —
RS879222360 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS879229776 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS879234543 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS879239475 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS879243445 ENPP1 Health Risk Conflicting classifications of pathogenicity —
RS879246194 CD55 Health Risk Likely pathogenic —
RS879247400 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS879247939 PKD2 Health Risk Pathogenic —
RS879248686 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS879251628 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS879253712 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS879253713 L1CAM Health Risk Pathogenic X-linked hydrocephalus syndrome, X-linked hydrocephalus syndrome
RS879253714 L1CAM Health Risk Pathogenic MASA syndrome, MASA syndrome
RS879253715 L1CAM Health Risk Pathogenic X-linked hydrocephalus syndrome, X-linked hydrocephalus syndrome
RS879253716 L1CAM Health Risk Likely pathogenic Spastic paraplegia, X-linked hydrocephalus syndrome
RS879253717 L1CAM Health Risk Pathogenic Hydrocephalus, X-linked
RS879253718 FGFR2 Health Risk Pathogenic Saethre-Chotzen syndrome, Saethre-Chotzen syndrome
RS879253719 FGFR2 Health Risk Pathogenic Pfeiffer syndrome, FGFR2-related craniosynostosis
RS879253720 FGFR2 Health Risk Pathogenic LADD syndrome 1, LADD syndrome 1
RS879253721 FGFR2 Health Risk Pathogenic Pfeiffer syndrome, Crouzon syndrome
RS879253722 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4C
RS879253723 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4C
RS879253724 L1CAM Health Risk Pathogenic X-linked hydrocephalus syndrome, X-linked hydrocephalus syndrome
RS879253725 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS879253726 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS879253727 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS879253728 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS879253729 OCA2 Health Risk Likely pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS879253731 TYK2 Health Risk Pathogenic Immunodeficiency 35, Immunodeficiency 35
RS879253732 TYK2 Health Risk Pathogenic Immunodeficiency 35, Immunodeficiency 35
RS879253733 HELLS Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Immunodeficiency-centromeric instability-facial anomalies syndrome 4
RS879253734 HELLS Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Immunodeficiency-centromeric instability-facial anomalies syndrome 4
RS879253735 HELLS Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Immunodeficiency-centromeric instability-facial anomalies syndrome 4
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