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
RS370994522 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS370994573 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy
RS370994796 PRPH2 Health Risk Conflicting classifications of pathogenicity PRPH2-related disorder, Retinal disorder
RS370994947 SERPINB6 Health Risk Conflicting classifications of pathogenicity —
RS370995867 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS370996432 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS370996795 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS370997492 GSN Health Risk Conflicting classifications of pathogenicity Finnish type amyloidosis, Inborn genetic diseases
RS370997745 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Fibrochondrogenesis 1
RS370998052 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS370998068 RTTN Health Risk Conflicting classifications of pathogenicity RTTN-related disorder, RTTN-related disorder
RS370998253 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS370998388 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases
RS371005946 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS371006369 DNM2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B
RS371006546 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS371007689 ATP6V1C2 Health Risk Conflicting classifications of pathogenicity —
RS371009856 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS371010287 CEP290 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 10, Bardet-Biedl syndrome 14
RS371011047 DYNC2H1 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS371011410 IARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371011963 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Inborn genetic diseases
RS371013005 ABCB4 Health Risk Conflicting classifications of pathogenicity —
RS371013292 B4GALNT1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS371013768 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Inborn genetic diseases
RS371013844 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Weill-Marchesani syndrome
RS371014306 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS371014686 HSD17B10 Health Risk Conflicting classifications of pathogenicity HSD10 mitochondrial disease, Inborn genetic diseases
RS371015050 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS371015305 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS371015800 LZTR1 Health Risk Pathogenic LZTR1-related disorder, Hereditary cancer-predisposing syndrome
RS371016744 ALOX12B Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS371016945 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS371017408 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS371017739 CRTAP Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta
RS371018598 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS371019314 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS371020228 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS371021775 NRIP1 Health Risk Conflicting classifications of pathogenicity NRIP1-related disorder, NRIP1-related disorder
RS371021789 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Inborn genetic diseases
RS371021920 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS371022001 GLIS2 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 7
RS371022420 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, TTN-related disorder
RS371022970 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS371024165 GJB2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Rare genetic deafness
RS371024396 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS371024769 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS371026706 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS371028127 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 12, Cardiovascular phenotype
RS371028392 CNNM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Renal hypomagnesemia 6
RS371029230 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371029653 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
RS371030180 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS371030255 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS371031259 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS371032798 EYS Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 25
RS371033104 PFKM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VII
RS371033488 ACAD8 Health Risk Conflicting classifications of pathogenicity Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS371034493 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS371035540 SFTPA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Interstitial lung disease 2
RS371035624 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS371035809 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Osteopetrosis
RS371036203 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS371038712 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Neonatal severe primary hyperparathyroidism
RS371040282 NDUFV2 Health Risk Likely pathogenic —
RS371040291 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS371041253 ATP6V1B1 Health Risk Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS371041584 SIL1 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS371042202 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
RS371043332 DSE Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, musculocontractural type 2
RS371043485 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS371044393 NOD2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Blau syndrome
RS371045201 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS371045998 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Inborn genetic diseases
RS371046424 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Inborn genetic diseases
RS371046485 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Ehlers-Danlos syndrome
RS371047178 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, RYR1-related disorder
RS371047262 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS371048718 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IV, classic hepatic
RS371048800 DARS2 Health Risk Conflicting classifications of pathogenicity DARS2-related disorder, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS371049362 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS371049542 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371049725 ACAN Health Risk Conflicting classifications of pathogenicity —
RS371050239 ADAR Health Risk Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS371050470 ABCA2 Health Risk Conflicting classifications of pathogenicity —
RS371050633 SLC19A2 Health Risk Pathogenic —
RS371051158 OTOF Health Risk Conflicting classifications of pathogenicity —
RS371051170 MALT1 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency
RS371052201 PTH1R Health Risk Conflicting classifications of pathogenicity —
RS371052704 CTNNA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS371053017 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS371053066 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Cardiovascular phenotype
RS371053390 CTSA Health Risk Conflicting classifications of pathogenicity Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS371053403 CFH Health Risk Conflicting classifications of pathogenicity CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome
RS371053482 SLC22A12 Health Risk Conflicting classifications of pathogenicity Dalmatian hypouricemia, Dalmatian hypouricemia
RS371056395 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS371056974 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS371057369 IQCB1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Senior-Loken syndrome 5
RS371058445 ATP2A1 Health Risk Pathogenic/Likely pathogenic Brody myopathy, Brody myopathy
RS371058953 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
« Prev 1 ... 2669 2670 2671 2672 2673 2674 2675 ... 4509 Next »

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

Get Started Free →