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
RS147080557 NLRP12 Health Risk Pathogenic/Likely pathogenic Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
RS147081804 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1470826074 DCAF17 Health Risk Likely pathogenic Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS147084460 MEGF8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147084515 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS147085074 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal recessive Alport syndrome
RS147085187 SERAC1 Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria with deafness, encephalopathy
RS147085238 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1470852605 DNAAF19 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS147085897 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1470879267 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS147088114 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147088274 OTOA Health Risk Conflicting classifications of pathogenicity —
RS147088860 MYO9A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147090090 HDAC4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1470912253 NGLY1 Health Risk Pathogenic/Likely pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS147091667 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS147091980 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1470919968 TG Health Risk Conflicting classifications of pathogenicity TG-related disorder, TG-related disorder
RS1470922571 UBQLN2 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15
RS1470928377 IL11RA Health Risk Likely pathogenic —
RS147092908 LAMC3 Health Risk Conflicting classifications of pathogenicity LAMC3-related disorder, LAMC3-related disorder
RS1470931619 NRXN1 Health Risk Pathogenic/Likely pathogenic Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS147093238 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147093541 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS147094927 MMUT Health Risk Likely pathogenic Methylmalonic acidemia, Methylmalonic acidemia
RS1470966288 ERCC6 Health Risk Pathogenic —
RS1470967742 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1470970903 SLC35C1 Health Risk Pathogenic Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II
RS1470974118 MDH2 Health Risk Pathogenic —
RS147097934 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS147098353 GHRHR Health Risk Conflicting classifications of pathogenicity Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB
RS147098410 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS147098776 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS147099791 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS1470998208 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type A
RS1470999303 TCIRG1 Health Risk Pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS147100928 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS147100948 NLRP1 Health Risk Conflicting classifications of pathogenicity —
RS1471014609 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS147101825 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, PIGO-related disorder
RS1471020927 SNORD8;CHD8;SNORD9 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS147102633 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS1471028467 ABCC9 Health Risk Pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS147102889 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1471030618 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS147103714 HADHA Health Risk Pathogenic/Likely pathogenic Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1471044025 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS147104425 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS147105770 ERCC4 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, type F/Cockayne syndrome
RS147106166 GJB3 Health Risk Conflicting classifications of pathogenicity Erythrokeratodermia variabilis et progressiva 1, Autosomal dominant nonsyndromic hearing loss 2B
RS147106267 HYAL1 Health Risk Conflicting classifications of pathogenicity Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS1471066594 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS147106727 AUTS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147106995 MID1 Health Risk Conflicting classifications of pathogenicity X-linked Opitz G/BBB syndrome, Inborn genetic diseases
RS1471070334 TRIOBP Health Risk Pathogenic —
RS1471079871 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS147108245 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS147108941 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS147109119 CYP11B2 Health Risk Conflicting classifications of pathogenicity Corticosterone methyl oxidase type II deficiency, Corticosterone methyl oxidase type II deficiency
RS147109895 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11
RS147110349 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS147110861 LFNG Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 3, autosomal recessive
RS147111211 TTC19 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 2, Inborn genetic diseases
RS147111779 PAX3 Health Risk Pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS147112151 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, INVS-related disorder
RS147112274 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147112322 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS147113227 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147114045 GLE1 Health Risk Likely pathogenic —
RS1471145742 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS147114577 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Orofaciodigital syndrome I
RS147115504 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS1471156821 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS147115867 DTNA Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 1, Left ventricular noncompaction 1
RS147116231 RP1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, RP1-related disorder
RS1471163637 SCN9A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS147116390 RERE Health Risk Conflicting classifications of pathogenicity RERE-related disorder, Inborn genetic diseases
RS147116577 CTNNA3 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Arrhythmogenic right ventricular dysplasia 13
RS147116781 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9
RS147117969 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS1471180323 ABCB4 Health Risk Conflicting classifications of pathogenicity —
RS147118268 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS147118493 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Cone-rod dystrophy
RS1471188671 CAPN1 Health Risk Pathogenic Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76
RS147119058 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS1471191879 ELANE Health Risk Conflicting classifications of pathogenicity Cyclical neutropenia, Neutropenia
RS147119272 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS147119709 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, TCIRG1-related disorder
RS147120329 PCK1 Health Risk Conflicting classifications of pathogenicity Phosphoenolpyruvate carboxykinase deficiency, cytosolic
RS147120596 NLRP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147121216 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS147121590 PRKN Health Risk Conflicting classifications of pathogenicity Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
RS1471232737 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS147123833 MFSD2A Health Risk Conflicting classifications of pathogenicity —
RS1471245340 SOS2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Noonan syndrome 9
RS1471249671 TANGO2 Health Risk Likely pathogenic —
RS1471249688 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS147125175 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, Inborn genetic diseases
RS1471253353 CLN6 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
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