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
RS868197660 GLIS3 Health Risk Pathogenic Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
RS868208063 RIT1 Health Risk Pathogenic Noonan syndrome 8, RIT1-related disorder
RS868214128 SLC12A3 Health Risk Pathogenic —
RS868216475 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS868226745 FAM161A Health Risk Pathogenic —
RS868228603 CYP17A1 Health Risk Pathogenic Deficiency of steroid 17-alpha-monooxygenase, Congenital adrenal hyperplasia
RS868238523 OCA2 Health Risk Conflicting classifications of pathogenicity Nonsyndromic Oculocutaneous Albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS868242502 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS868244206 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS868255776 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS868256749 DPY19L2 Health Risk Pathogenic Spermatogenic failure 9, Spermatogenic failure 9
RS868258653 TGFB3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Arrhythmogenic right ventricular dysplasia 1
RS868267519 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS868269804 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS868273545 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, See cases
RS868280865 SLC45A2 Health Risk Pathogenic —
RS868289171 TRMT1 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal recessive 68
RS868293429 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS868294039 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS868296217 INSR Health Risk Conflicting classifications of pathogenicity Leprechaunism syndrome, Insulin-resistant diabetes mellitus AND acanthosis nigricans
RS868301643 PLN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1P, Cardiovascular phenotype
RS868302830 AR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS868310475 CILK1 Health Risk Likely pathogenic Short rib-polydactyly syndrome, Short rib-polydactyly syndrome
RS868312344 TUBGCP6 Health Risk Pathogenic —
RS868313799 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS868318523 UNC13D Health Risk Pathogenic Autoinflammatory syndrome, Autoinflammatory syndrome
RS868320081 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS868326109 ATP6V0A4 Health Risk Pathogenic Renal tubular acidosis, distal
RS868327024 SMAD6 Health Risk Pathogenic Craniosynostosis 7, Craniosynostosis 7
RS868329184 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS868331986 KMT2B Health Risk Conflicting classifications of pathogenicity Dystonia 28, childhood-onset
RS868337994 CSNK2A1 Health Risk Likely pathogenic Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome
RS868338421 MICU1 Health Risk Pathogenic —
RS868339867 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS868340954 ADAMTSL2 Health Risk Conflicting classifications of pathogenicity Geleophysic dysplasia 1, Geleophysic dysplasia 1
RS868345341 NDUFAF6 Health Risk Pathogenic —
RS868345557 CHCHD10 Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Lower motor neuron syndrome with late-adult onset
RS868347260 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS868349465 EYS Health Risk Pathogenic/Likely pathogenic Macular dystrophy, Autosomal recessive retinitis pigmentosa
RS868349549 TTN Health Risk Pathogenic —
RS868350953 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS868354311 VPS13D Health Risk Likely pathogenic Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Spinocerebellar ataxia type 4
RS868354713 VPS33B Health Risk Conflicting classifications of pathogenicity Arthrogryposis, renal dysfunction
RS868369541 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS868369610 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS868374643 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS868375261 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS868376839 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS868378229 ATR Health Risk Pathogenic —
RS868389022 NRROS Health Risk Pathogenic Seizures, early-onset
RS868389032 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Charcot-Marie-Tooth disease type 2
RS868392830 ALDOB Health Risk Pathogenic Hereditary fructosuria, Hereditary fructosuria
RS868392930 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS868399686 KLF11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 7, Maturity-onset diabetes of the young type 7
RS868403677 LAMC3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS868403743 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS868404889 TMEM67 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 3
RS868409473 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS868410563 HPS5 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 5, HPS5-related disorder
RS868416561 KCNJ5 Health Risk Conflicting classifications of pathogenicity Familial hyperaldosteronism type III, Familial hyperaldosteronism type III
RS868416935 NF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS868417981 COL2A1 Health Risk Likely pathogenic Achondrogenesis type II, Achondrogenesis type II
RS868423827 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type A
RS868425061 KCNQ3 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS868431923 AGK Health Risk Pathogenic Sengers syndrome, Sengers syndrome
RS868439179 HRAS Health Risk Conflicting classifications of pathogenicity Costello syndrome, Costello syndrome
RS868442196 NSUN2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Autosomal recessive non-syndromic intellectual disability
RS868444911 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS868447365 BMPER Health Risk Likely pathogenic —
RS868450405 NF1 Health Risk Pathogenic Rhabdomyosarcoma, Neurofibromatosis
RS868452063 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS868452487 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS868454222 SCAF4 Health Risk Pathogenic Inborn genetic diseases, Fliedner-Zweier syndrome
RS868456972 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS868463826 NBAS Health Risk Conflicting classifications of pathogenicity —
RS868465415 COL7A1 Health Risk Conflicting classifications of pathogenicity —
RS868467486 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS868467734 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS868468606 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS868469301 TBX4 Health Risk Likely pathogenic Coxopodopatellar syndrome, Coxopodopatellar syndrome
RS868472772 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, Noonan syndrome and Noonan-related syndrome
RS868477630 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS868479224 HSPG2 Health Risk Likely pathogenic —
RS868494032 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS868498080 MBOAT7 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 57
RS868502763 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS868522953 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS868527871 CEL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Maturity-onset diabetes of the young type 8
RS868530644 MYORG Health Risk Likely pathogenic Basal ganglia calcification, idiopathic
RS868533593 DCAF17 Health Risk Pathogenic/Likely pathogenic Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS868538598 PRPF31 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa
RS868539367 STX1B Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS868543294 ABCA4 Health Risk Pathogenic Retinal dystrophy, Stargardt disease
RS868545143 SKI Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome
RS868546165 WT1 Health Risk Conflicting classifications of pathogenicity Meacham syndrome, Wilms tumor 1
RS868546240 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS868551614 ITGAM Health Risk Conflicting classifications of pathogenicity —
RS868557040 GUCY2D Health Risk Likely pathogenic GUCY2D-related recessive retinopathy, GUCY2D-related recessive retinopathy
RS868562051 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease
RS868562952 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
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