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
RS780073797 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS780074938 KLHDC8B Health Risk Conflicting classifications of pathogenicity —
RS780078856 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS780079111 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780080040 PMS2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS780080562 MYCN Health Risk Pathogenic/Likely pathogenic Feingold syndrome type 1, Feingold syndrome type 1
RS780082160 CLDN19 Health Risk Pathogenic/Likely pathogenic Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement
RS780082503 NHLRC1 Health Risk Pathogenic/Likely pathogenic Lafora disease, Myoclonic epilepsy of Lafora 2
RS780082584 MMAA Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblA type
RS780084290 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS780084962 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780085174 MOCS2 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, MOCS2-related disorder
RS780085391 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS780086745 SLC16A2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS780087216 CRB1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Leber congenital amaurosis 8
RS780088167 DLL3 Health Risk Conflicting classifications of pathogenicity Syndactyly, Spondylocostal dysostosis 1
RS780088227 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS780088661 PEX3 Health Risk Pathogenic —
RS780089604 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS780089971 DARS2 Health Risk Pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS780091398 HBA2 Health Risk Likely pathogenic alpha Thalassemia, alpha Thalassemia
RS780093151 BSCL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
RS780094017 UNC93B1 Health Risk risk factor Herpes simplex encephalitis, susceptibility to
RS780094078 PIGG Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 53
RS780094265 SZT2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 18
RS780095931 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS780096090 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS780096892 USP11 Health Risk Likely pathogenic Abnormal brain morphology, Abnormal brain morphology
RS780098760 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS780099523 STING1 Health Risk Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy, Inborn genetic diseases
RS780099835 TLR9 Health Risk Likely pathogenic Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula
RS780100734 BCL11B Health Risk Likely pathogenic —
RS780100866 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS780101457 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy
RS780102059 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS780102096 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, EHMT1-related disorder
RS780102540 ARSG Health Risk Pathogenic —
RS780104369 VCAN Health Risk Conflicting classifications of pathogenicity Wagner disease, Vitreoretinopathy
RS780106243 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis
RS780106984 PLK4 Health Risk Pathogenic/Likely pathogenic Microcephaly and chorioretinopathy 2, Microcephaly and chorioretinopathy 2
RS780107088 ALG1 Health Risk Pathogenic/Likely pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS780108348 NBAS Health Risk Pathogenic Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Infantile liver failure syndrome 2
RS780109160 GLB1 Health Risk Likely pathogenic Infantile GM1 gangliosidosis, GLB1-related disorder
RS780109230 ANO5 Health Risk Likely pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS780110473 KCNQ2 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS780110476 DMP1 Health Risk Conflicting classifications of pathogenicity —
RS780110659 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS780111656 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS780112037 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS780112704 FRAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Fraser syndrome 1
RS780113721 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS780114238 CD36 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
RS780114543 FANCA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780114710 KRIT1 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS780115763 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS780115806 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Limb-girdle muscular dystrophy
RS780116205 EIF2B1 Health Risk Pathogenic —
RS780116486 DNAI2 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS780117205 SAG Health Risk Likely pathogenic —
RS780119112 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, PEX1-related disorder
RS780119172 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome 1, Joubert syndrome
RS780119305 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS780120451 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS780120566 DAG1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS780121125 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS780121182 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS780122141 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS780122177 LRP2 Health Risk Conflicting classifications of pathogenicity —
RS780122780 SOX11 Health Risk Likely pathogenic Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS780123062 PNKD Health Risk Conflicting classifications of pathogenicity Paroxysmal nonkinesigenic dyskinesia, Paroxysmal nonkinesigenic dyskinesia
RS780123768 SLC26A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS780123839 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS780124402 MYH2 Health Risk Pathogenic/Likely pathogenic Myopathy, proximal
RS780124773 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, TTN-related disorder
RS780125251 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS780125769 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS780125805 TTC21B Health Risk Pathogenic Nephronophthisis, Jeune thoracic dystrophy
RS780128218 BRD4 Health Risk Pathogenic —
RS780128851 HIVEP2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 43
RS780129376 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS780130028 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS780130036 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS780130215 CAMK2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 54
RS780130566 SETD5 Health Risk Pathogenic —
RS780130738 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS780131226 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS780131344 FOXRED1 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 19
RS780133021 RARS1 Health Risk Conflicting classifications of pathogenicity —
RS780133289 TMEM127 Health Risk Pathogenic/Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS780134343 PROP1 Health Risk Pathogenic Pituitary hormone deficiency, combined
RS780134410 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type A
RS780134593 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS780135578 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS780136067 SIGMAR1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 16, Autosomal recessive distal spinal muscular atrophy 2
RS780137252 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780138876 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780139133 TRAPPC11 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS780139552 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS780141544 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS780141938 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
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