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
RS138453255 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, Cardiovascular phenotype
RS1384539153 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS138454151 YARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases
RS138454333 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS1384545687 RAG1 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS138455166 EPS8 Health Risk Conflicting classifications of pathogenicity —
RS1384567912 POLR3A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS138457635 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS138457742 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS138457751 FBN3 Health Risk Conflicting classifications of pathogenicity FBN3-related disorder, FBN3-related disorder
RS1384578916 BBS9 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome
RS138457939 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, 6 conditions
RS1384581509 SCN9A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 7
RS138458710 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS138459415 GUF1 Health Risk Conflicting classifications of pathogenicity —
RS138459502 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS138459752 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS138460117 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS1384610957 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS138461488 DUOX2 Health Risk Conflicting classifications of pathogenicity —
RS138461953 LMF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS138461986 TSFM Health Risk Conflicting classifications of pathogenicity Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS138462062 TXNRD2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS138462416 SLC26A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS1384628074 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS138463877 TEK Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS138464473 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS138464813 FAM161A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 28
RS138465008 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS1384651581 DNAAF3 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS138465383 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome
RS1384661323 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Familial infantile myasthenia
RS138466455 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS138467082 LMNB2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 9, Lipodystrophy
RS1384671249 PEX10 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, complementation group 7
RS1384677442 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1, Usher syndrome type 1F
RS138468216 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS138468395 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1384688313 GAMT Health Risk Pathogenic Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome
RS1384690038 F5 Health Risk Conflicting classifications of pathogenicity Thromboembolism, Factor V deficiency
RS138469414 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Congenital hypothyroidism
RS1384701659 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Adult hypophosphatasia
RS138472027 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS138472116 NDUFV2 Health Risk Conflicting classifications of pathogenicity —
RS138472236 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1384722572 ZNF408 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1384723170 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS138472388 SPTBN4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138473035 PCDH12 Health Risk Conflicting classifications of pathogenicity Diencephalic-mesencephalic junction dysplasia syndrome 1, Diencephalic-mesencephalic junction dysplasia syndrome 1
RS138473993 ATR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1384748892 FANCG Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group G, Fanconi anemia
RS1384750316 GALNT3 Health Risk Pathogenic —
RS1384752453 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS138475832 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS138475920 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, Retinal dystrophy
RS138476691 PKLR Health Risk Pathogenic/Likely pathogenic —
RS138477254 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS138477419 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS138477428 NGLY1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of deglycosylation, NGLY1-related disorder
RS138477887 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS1384780420 MSH6 Health Risk Pathogenic/Likely pathogenic Endometrial carcinoma, Lynch syndrome
RS1384780611 EPM2A Health Risk Likely pathogenic Myoclonic epilepsy of Lafora 1, Myoclonic epilepsy of Lafora 1
RS1384783399 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS138478808 SAMD9 Health Risk Conflicting classifications of pathogenicity MIRAGE syndrome, SAMD9-related disorder
RS1384790834 TTN Health Risk Pathogenic —
RS138479499 TK2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, myopathic form
RS1384797283 CDAN1 Health Risk Conflicting classifications of pathogenicity —
RS138480247 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, Inborn genetic diseases
RS1384803634 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1384805011 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1384806459 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS138480801 TSPEAR Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
RS138481447 LAMC3 Health Risk Conflicting classifications of pathogenicity Occipital pachygyria and polymicrogyria, Inborn genetic diseases
RS138481453 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, See cases
RS138482881 TMEM151A Health Risk Pathogenic Episodic kinesigenic dyskinesia 3, Episodic kinesigenic dyskinesia 3
RS1384829419 HCN4 Health Risk Pathogenic Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy
RS138483823 PYGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VI
RS1384843815 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome
RS138484426 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS138485817 APPL1 Health Risk Conflicting classifications of pathogenicity —
RS138485972 SLC22A12 Health Risk Conflicting classifications of pathogenicity Dalmatian hypouricemia, Dalmatian hypouricemia
RS1384867851 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1384868120 DMD Health Risk Pathogenic —
RS138486840 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS138487227 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS138487695 TYR Health Risk Likely pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1A
RS1384878260 FKRP Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS138488088 ADCY5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ADCY5-related disorder
RS138488179 WDR81 Health Risk Conflicting classifications of pathogenicity —
RS1384884334 EYS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1384888093 DYNC2H1 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS138489241 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder, complementation group 7
RS1384892917 DHX37 Health Risk Pathogenic 46, XY sex reversal 11
RS138489501 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS138489552 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS138489664 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS138489917 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS138490347 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS138490756 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS138490803 COQ7 Health Risk Pathogenic Primary coenzyme Q10 deficiency 8, Primary coenzyme Q10 deficiency 8
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