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
RS549378386 CACNA1D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS549378554 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS549380649 PIGG Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 53
RS549381989 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS549395315 MNS1 Health Risk Pathogenic Heterotaxy, visceral
RS549397464 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS549397527 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS549405420 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS549408462 MYH9 Health Risk Conflicting classifications of pathogenicity —
RS549421635 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS549430098 DARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Thymoma
RS549435434 TH Health Risk Pathogenic/Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS549438462 NLRP12 Health Risk Likely pathogenic —
RS549442380 NARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 24, Inborn genetic diseases
RS549442687 MC4R Health Risk Conflicting classifications of pathogenicity Obesity, Obesity due to melanocortin 4 receptor deficiency
RS549442808 ANO6 Health Risk Pathogenic SCOTT SYNDROME, SCOTT SYNDROME
RS549450153 BSCL2 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS549450795 DPM2 Health Risk Pathogenic/Likely pathogenic Congenital muscular dystrophy with intellectual disability and severe epilepsy, Congenital muscular dystrophy with intellectual disability and severe epilepsy
RS549451471 DSP Health Risk Conflicting classifications of pathogenicity 6 conditions, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS549457480 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 10
RS549467159 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS549470227 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS549474196 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS549476254 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Catecholaminergic polymorphic ventricular tachycardia
RS549478203 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS549489716 SMAD4 Health Risk Conflicting classifications of pathogenicity Generalized juvenile polyposis/juvenile polyposis coli, Hereditary cancer-predisposing syndrome
RS549507714 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS549509054 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS549518317 INF2 Health Risk Conflicting classifications of pathogenicity Kidney disorder, Inborn genetic diseases
RS549524538 FGFR2 Health Risk Conflicting classifications of pathogenicity Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome
RS549532374 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS549538513 SPAST Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS549542551 PPIB Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 9, Osteogenesis imperfecta type 9
RS549543886 GATA4 Health Risk Conflicting classifications of pathogenicity Congenital heart disease, GATA4-related disorder
RS549545938 AVP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS549546640 GSS Health Risk Conflicting classifications of pathogenicity —
RS549556142 CDC14A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 32, Ear malformation
RS549556281 KIF15 Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS549559724 DUOX2 Health Risk Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS549559726 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS549560429 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS549585242 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS549586181 RNASEH2A Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 4, Aicardi Goutieres syndrome
RS549587142 EIF2B1 Health Risk Pathogenic —
RS549588854 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS549591728 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS549597016 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS549598246 TTN Health Risk Conflicting classifications of pathogenicity —
RS549598534 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS549604128 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Myopathy
RS549612492 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS549614550 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Neuroblastoma
RS549625604 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome 10, Bardet-biedl syndrome 6/10
RS549630973 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS549648443 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Mucolipidosis type IV
RS549658720 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS549659598 KLB Health Risk Conflicting classifications of pathogenicity KLB-related disorder, Hypogonadotropic hypogonadism
RS549662606 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS549662742 FAM186B Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS549664412 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS549670381 GCM2 Health Risk Conflicting classifications of pathogenicity Familial hypoparathyroidism, Familial hypoparathyroidism
RS549673939 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
RS549677025 SERAC1 Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria with deafness, encephalopathy
RS549682194 ALDOB Health Risk Conflicting classifications of pathogenicity Hereditary fructosuria, ALDOB-related disorder
RS549696399 LHCGR Health Risk Conflicting classifications of pathogenicity —
RS549698133 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS549702559 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11
RS549704545 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS549712764 G6PC1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS549721454 MAP3K1 Health Risk Conflicting classifications of pathogenicity 46, XY sex reversal 6
RS549730049 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS549735647 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, SPG7-related disorder
RS549738466 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Inborn genetic diseases
RS549741449 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS549753655 CASP8 Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 2B, Inborn genetic diseases
RS549757247 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS549758428 MYBPC3 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4
RS549759248 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS549767223 TWNK Health Risk Conflicting classifications of pathogenicity Sensory ataxic neuropathy, dysarthria
RS549769200 GLE1 Health Risk Conflicting classifications of pathogenicity Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal congenital contracture syndrome 1
RS549772449 MAP2K2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, RASopathy
RS549778143 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS549779256 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS549781052 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS549784796 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 28
RS549788738 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS549790164 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS549794342 NEB Health Risk Conflicting classifications of pathogenicity Limb pain, Progressive proximal muscle weakness
RS549795936 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS549807022 MMAB Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
RS549807529 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS549813139 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy
RS549819134 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS549834851 GUCY2D Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS549839037 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS549841864 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS549856684 MYO18B Health Risk Pathogenic —
RS549857076 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS549858104 CNGB3 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Achromatopsia 3
RS549872555 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, 7 conditions
« Prev 1 ... 2920 2921 2922 2923 2924 2925 2926 ... 4509 Next »

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

Get Started Free →