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
RS1276619385 KLF7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mild expressive language delay
RS1276620073 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Transient bullous dermolysis of the newborn
RS1276623521 TECPR2 Health Risk Likely pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS1276625381 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1276630036 TBCD Health Risk Conflicting classifications of pathogenicity Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS1276641904 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1276653645 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1276672073 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1276678432 COL7A1 Health Risk Pathogenic 7 conditions, 7 conditions
RS1276704052 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1276726206 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS1276732246 COQ9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1276774121 TCTN3 Health Risk Pathogenic Joubert syndrome 18, Orofacial-digital syndrome IV
RS1276785065 CAPRIN1 Health Risk Likely pathogenic Moyamoya angiopathy, Moyamoya angiopathy
RS1276808115 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1276808934 ESCO2 Health Risk Likely pathogenic —
RS1276813954 PIEZO2 Health Risk Likely pathogenic Arthrogryposis, distal
RS1276815916 EVC Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS1276818330 LCT Health Risk Likely pathogenic Congenital lactase deficiency, Congenital lactase deficiency
RS1276825352 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1276832919 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1276835884 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1276839362 CASR Health Risk Pathogenic/Likely pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS1276839756 ECHS1 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS1276845142 IMPG2 Health Risk Pathogenic/Likely pathogenic —
RS1276847644 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8
RS1276849158 TUBGCP6 Health Risk Pathogenic —
RS1276849351 EYA4 Health Risk Likely pathogenic Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J
RS1276890742 ADGRV1 Health Risk Pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS1276900541 CEP250 Health Risk Likely pathogenic —
RS1276905604 GLRA2 Health Risk Pathogenic Intellectual developmental disorder, X-linked
RS1276908141 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS1276918786 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS1276927916 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1276960586 NEK1 Health Risk Likely pathogenic NEK1-related disorder, NEK1-related disorder
RS1276966122 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1276969689 RNASEH2A Health Risk Pathogenic Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS1276979881 CEP83 Health Risk Pathogenic Nephronophthisis 18, Nephronophthisis 18
RS1276982403 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1276998235 HPD Health Risk Pathogenic Hawkinsinuria, Hawkinsinuria
RS1277011664 SPEG Health Risk Pathogenic —
RS1277024568 BCL11B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1277029090 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1277040907 NPHS2 Health Risk Pathogenic Nephrotic syndrome, type 2
RS1277063931 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1277084672 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1277093532 ESCO2 Health Risk Pathogenic —
RS1277132301 CTNND1 Health Risk Pathogenic Blepharocheilodontic syndrome 2, Blepharocheilodontic syndrome 2
RS1277140205 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1
RS1277150134 SURF1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Leigh syndrome
RS1277185772 ODAD3 Health Risk Pathogenic Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30
RS1277223368 CENPF Health Risk Pathogenic —
RS1277233450 EMC1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1277262601 LAMB1 Health Risk Pathogenic —
RS1277270999 SMG8 Health Risk Likely pathogenic Alzahrani-Kuwahara syndrome, Alzahrani-Kuwahara syndrome
RS1277271891 PROC Health Risk Likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS1277282343 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS1277299943 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS1277307657 FGD1 Health Risk Likely pathogenic —
RS1277312139 RIMS1 Health Risk Conflicting classifications of pathogenicity —
RS1277316340 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS1277326765 C2orf69 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 53, Combined oxidative phosphorylation deficiency 53
RS1277328500 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS1277350671 ACD Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 6
RS1277370326 COL17A1 Health Risk Pathogenic —
RS1277383877 PIGT Health Risk Pathogenic/Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 3, Seizure
RS1277387034 AUTS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1277391984 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1277409725 CNGA3 Health Risk Conflicting classifications of pathogenicity —
RS1277413183 TRIM8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1277472105 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS1277488324 SDHC Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS1277509410 CP;HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS1277577195 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1277613130 HNF4A Health Risk Conflicting classifications of pathogenicity Familial hyperinsulinism, Maturity-onset diabetes of the young type 1
RS1277616719 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS1277669986 LIPC Health Risk Pathogenic Abnormal circulating lipid concentration, Cervical cancer
RS1277670335 FANCF Health Risk Likely pathogenic Fanconi anemia complementation group F, Fanconi anemia complementation group F
RS1277671151 ADGRV1 Health Risk Likely pathogenic —
RS1277676635 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS1277709050 ODAD2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1277727437 GALM Health Risk Pathogenic —
RS1277734487 FGFR2 Health Risk Conflicting classifications of pathogenicity FGFR2-related craniosynostosis, 11 conditions
RS1277758473 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1277769195 GATA6 Health Risk Pathogenic Atrioventricular septal defect 5, Atrioventricular septal defect 5
RS1277790116 ANO3 Health Risk Pathogenic Dystonia 24, Dystonia 24
RS1277794845 POLH Health Risk Pathogenic Xeroderma pigmentosum, Xeroderma pigmentosum
RS1277796753 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1277798362 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1277838867 IFT27 Health Risk Pathogenic —
RS1277839212 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1277847755 MYH3 Health Risk Likely pathogenic MYH3-related disorder, MYH3-related disorder
RS1277851312 KLHL40 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS1277857720 DHX37 Health Risk Likely pathogenic Intellectual disability, Neurodevelopmental delay
RS1277862520 NPHP3 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS1277867710 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS1277885369 TRPM1 Health Risk Pathogenic —
RS1277893899 NPRL3 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS1277911369 OCA2 Health Risk Conflicting classifications of pathogenicity SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS1277939715 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
« Prev 1 ... 334 335 336 337 338 339 340 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →