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
RS1207247951 USH1C Health Risk Pathogenic Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS1207255352 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1207279110 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1207290572 SCN9A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 7
RS1207292931 CHAT Health Risk Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS1207298097 CBS Health Risk Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS1207333910 DCTN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 1
RS1207345139 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS1207360336 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1207389001 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1207394743 SCN5A Health Risk Pathogenic Brugada syndrome, Brugada syndrome
RS1207409225 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1207417919 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS1207446214 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS1207454395 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1207466199 CAVIN1 Health Risk Pathogenic/Likely pathogenic Congenital generalized lipodystrophy type 4, Congenital generalized lipodystrophy type 4
RS1207467578 AP3B1 Health Risk Pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS1207471194 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrullinemia type II, Citrin deficiency
RS1207482914 ACAD8 Health Risk Pathogenic Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS1207483065 BRCA2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary breast ovarian cancer syndrome
RS1207489144 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS1207493576 COL4A3 Health Risk Pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS1207503394 PDZD7 Health Risk Likely pathogenic —
RS1207503913 CYP24A1 Health Risk Pathogenic —
RS1207533798 PUS1 Health Risk Pathogenic —
RS1207534366 LGI4 Health Risk Pathogenic Arthrogryposis multiplex congenita 2, neurogenic type
RS1207538473 ABCC2 Health Risk Pathogenic —
RS1207540324 ITK Health Risk Pathogenic/Likely pathogenic —
RS1207559307 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1207567940 OTOF Health Risk Pathogenic Auditory neuropathy, Auditory neuropathy
RS1207569870 GLB1 Health Risk Pathogenic/Likely pathogenic Infantile GM1 gangliosidosis, GM1 gangliosidosis
RS1207589187 MAN1B1 Health Risk Pathogenic MAN1B1-congenital disorder of glycosylation, Rafiq syndrome
RS1207597891 PKHD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 4, Polycystic kidney disease 4
RS1207616449 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1207643613 COL1A1 Health Risk Likely pathogenic —
RS1207652491 CHAT Health Risk Pathogenic/Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS1207660411 UBE3A Health Risk Likely pathogenic Angelman syndrome, Angelman syndrome
RS1207661388 KCNQ5 Health Risk Likely pathogenic —
RS1207685911 SGCB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS1207709557 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3
RS1207710123 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1207715560 WNT1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Inborn genetic diseases
RS1207744817 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS1207761117 ERCC6L2 Health Risk Pathogenic —
RS1207787135 BRCA1 Health Risk Conflicting classifications of pathogenicity Malignant tumor of breast, Breast and/or ovarian cancer
RS1207791347 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS1207800938 CASQ2 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS1207804224 CEP83 Health Risk Pathogenic Nephronophthisis 18, Nephronophthisis 18
RS1207818522 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1207820860 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS1207842035 DEAF1 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Inborn genetic diseases
RS1207850001 SPTBN2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 14, Autosomal recessive spinocerebellar ataxia 14
RS1207868159 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1207879599 PNPLA1 Health Risk Pathogenic/Likely pathogenic Congenital ichthyosiform erythroderma, Autosomal recessive congenital ichthyosis 10
RS1207909659 ESCO2 Health Risk Likely pathogenic Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome
RS1207922864 KCTD7 Health Risk Pathogenic Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS1207931375 CRADD Health Risk Likely pathogenic Intellectual disability, autosomal recessive 34
RS1207944612 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS1207963576 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax
RS1207964757 PCARE Health Risk Pathogenic —
RS1207966026 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS12079762 RBM8A Health Risk Pathogenic Radial aplasia-thrombocytopenia syndrome, RBM8A-related disorder
RS1207986488 TJP2 Health Risk Conflicting classifications of pathogenicity TJP2-related disorder, Inborn genetic diseases
RS1207988953 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1208004863 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS1208011631 CHRNA1 Health Risk Pathogenic Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS1208014123 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Muir-Torré syndrome
RS1208055411 CDH3 Health Risk Pathogenic —
RS12080579 SDCCAG8 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS1208076212 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1208085896 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1208095603 PKHD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS1208103544 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1208131908 GRIN2D Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 46
RS1208137808 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1208139876 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS1208144689 CEP152 Health Risk Pathogenic/Likely pathogenic Microcephaly 9, primary
RS1208154701 NDUFS6 Health Risk Pathogenic —
RS1208178394 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS1208195953 ABCA4 Health Risk Pathogenic/Likely pathogenic Stargardt disease, Retinal dystrophy
RS1208216597 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1208223013 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS1208228105 H1-4 Health Risk Pathogenic Rahman syndrome, Rahman syndrome
RS1208231013 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, 6 conditions
RS1208252356 KIAA0586 Health Risk Likely pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS1208252513 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1208266252 CYP11B1 Health Risk Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS1208297049 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1208311085 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Osteopetrosis
RS1208370356 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1208372191 GREB1L Health Risk Pathogenic Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3
RS1208384558 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1208389261 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1208409389 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1208417750 MC2R Health Risk Pathogenic Glucocorticoid Deficiency, Glucocorticoid Deficiency
RS1208433027 ESCO2 Health Risk Likely pathogenic Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome
RS1208459885 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1208462125 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4B
RS1208489068 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1208505871 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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