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
RS772168965 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS772169059 CYP11B1 Health Risk Pathogenic —
RS772169265 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS772169780 TPP2 Health Risk Pathogenic Evans syndrome, immunodeficiency
RS772170723 CACNA1E Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69
RS772170724 IDH2 Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 2, D-2-hydroxyglutaric aciduria 2
RS772170760 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS772171150 DNAJB5 Health Risk Conflicting classifications of pathogenicity —
RS772171727 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS772171799 VPS13A Health Risk Pathogenic/Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS772172396 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS772173133 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS772173320 TYR Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism, Inborn genetic diseases
RS772173797 EEF2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 26, Spinocerebellar ataxia type 26
RS772174079 TUBGCP6 Health Risk Pathogenic Microcephaly and chorioretinopathy with or without intellectual disability, Microcephaly and chorioretinopathy with or without intellectual disability
RS772176483 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS772177974 SDHAF2 Health Risk Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS772178551 SMOC1 Health Risk Likely pathogenic Microphthalmia with limb anomalies, Microphthalmia with limb anomalies
RS772179602 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS772180415 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS772181597 MYO18B Health Risk Pathogenic Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS772183700 ETV5 Health Risk Pathogenic Myoepithelial tumor, Myoepithelial tumor
RS772184143 NGLY1 Health Risk Likely pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS772185467 SGCD Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases
RS772185859 SCLT1 Health Risk Pathogenic —
RS772186151 FBN2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly
RS772186737 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS772187163 MTHFS;ST20-MTHFS Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, epilepsy
RS772187536 CCND2 Health Risk Conflicting classifications of pathogenicity —
RS772188113 RECQL Health Risk Conflicting classifications of pathogenicity —
RS772188600 NDUFV2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 7
RS772188901 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rubinstein-Taybi syndrome
RS772190176 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS772190761 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS772192145 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
RS772192888 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Nonpapillary renal cell carcinoma
RS772193051 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS772194378 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS772195446 TTN Health Risk Conflicting classifications of pathogenicity —
RS772195716 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS772195737 SCN2A Health Risk Conflicting classifications of pathogenicity —
RS772195825 COL7A1 Health Risk Conflicting classifications of pathogenicity 7 conditions, 7 conditions
RS772196842 CTR9 Health Risk Likely pathogenic CTR9-related neurodevelopmental disorder, CTR9-related neurodevelopmental disorder
RS772197330 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, PKD1-related disorder
RS772197358 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS772197667 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS772198378 KDM4B Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder, autosomal dominant 65
RS772199096 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS772199158 DDHD2 Health Risk Likely pathogenic —
RS772200098 CNGB1 Health Risk Pathogenic —
RS772200521 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS772200785 TUBGCP4 Health Risk Pathogenic/Likely pathogenic Microcephaly and chorioretinopathy 3, Microcephaly and chorioretinopathy 3
RS772201159 AQP2 Health Risk Pathogenic/Likely pathogenic Diabetes insipidus, nephrogenic
RS772201593 FMN1 Health Risk Conflicting classifications of pathogenicity —
RS772201779 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS772202137 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease
RS772202157 SIM1 Health Risk Likely pathogenic SIM1-related disorder, SIM1-related disorder
RS772203447 VWF Health Risk Likely pathogenic Hereditary von Willebrand disease, Hereditary von Willebrand disease
RS772204305 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS772204397 MERTK Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 38
RS772205776 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Inborn genetic diseases
RS772205982 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS772206416 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS772206760 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS772206941 ABCB4 Health Risk Conflicting classifications of pathogenicity ABCB4-related disorder, ABCB4-related disorder
RS772206990 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Inborn genetic diseases
RS772210495 CTSA Health Risk Pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS772211003 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS772211127 SLC34A3 Health Risk Pathogenic —
RS772211147 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS772211603 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS772211736 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS77221231 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS772212348 PNP Health Risk Pathogenic Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
RS772212502 UPB1 Health Risk Pathogenic Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
RS772212922 SLCO2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772213710 MC4R Health Risk Likely pathogenic —
RS772214214 GLE1 Health Risk Pathogenic —
RS772214871 UNG Health Risk Pathogenic Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
RS772215032 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS772216832 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS772217003 PLEKHG5 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS772217684 LIFR Health Risk Likely pathogenic —
RS772217958 MME Health Risk Pathogenic —
RS772218663 BUB1B Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases
RS772219642 CCDC39 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 14, Primary ciliary dyskinesia
RS772220644 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS772220753 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS772220893 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS772221158 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS772221624 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS772222117 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS772222126 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS772224406 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS772224695 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS772225061 PIGA Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 2, PIGA-related disorder
RS772226399 LIG4 Health Risk Pathogenic LIG4-related disorder, DNA ligase IV deficiency
RS772226479 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS772226664 CHD8 Health Risk Likely pathogenic Intellectual developmental disorder with autism and macrocephaly, Familial prostate cancer
RS772226744 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
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