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
RS767219084 ARG1 Health Risk Pathogenic/Likely pathogenic Arginase deficiency, Arginase deficiency
RS767220480 AP4B1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
RS767220705 AFG2B Health Risk Likely pathogenic See cases, See cases
RS767221160 BBS5 Health Risk Pathogenic Bardet-Biedl syndrome 5, Bardet-Biedl syndrome
RS767221166 EMC1 Health Risk Pathogenic —
RS767221324 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS767221835 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS767222404 TLE6 Health Risk Likely pathogenic Preimplantation embryonic lethality 1, Preimplantation embryonic lethality 1
RS767224320 GP1BA Health Risk Likely pathogenic Bernard-Soulier syndrome, type A2
RS767225561 PPOX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767226511 DNMT3A Health Risk Pathogenic —
RS767226781 OTOGL Health Risk Pathogenic —
RS767228097 MYO3A Health Risk Conflicting classifications of pathogenicity —
RS767229413 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS767230275 FAT4 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS767230468 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Inborn genetic diseases
RS767231715 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS767231867 L2HGDH Health Risk Conflicting classifications of pathogenicity L-2-hydroxyglutaric aciduria, Inborn genetic diseases
RS767231963 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS767232021 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS767232097 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS767232138 CFTR Health Risk Pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS767234515 CPAP Health Risk Pathogenic —
RS767234618 CTNNA3 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13
RS767234936 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS767235227 MYH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767236033 DNMT3A Health Risk Conflicting classifications of pathogenicity Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS767236077 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS767236217 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS767236339 TXNRD2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype
RS767236617 RNU4ATAC Health Risk Conflicting classifications of pathogenicity Osteodysplastic primordial dwarfism, type 1
RS767236696 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS76723693 G6PD Health Risk Pathogenic/Likely pathogenic G6PD deficiency, Anemia
RS767237510 OBSL1 Health Risk Pathogenic 3M syndrome 2, OBSL1-related disorder
RS767237971 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS767238539 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, ETFDH-related disorder
RS767239312 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS767239679 MYBPC3 Health Risk Likely pathogenic Cardiomyopathy, Hypertrophic cardiomyopathy
RS767239688 TSHR Health Risk Likely pathogenic Hypothyroidism due to TSH receptor mutations, Sarcoma
RS767240266 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Thrombocytopenia 2
RS767240420 F11 Health Risk Conflicting classifications of pathogenicity Hereditary factor XI deficiency disease, Plasma factor XI deficiency
RS767240461 CUL3 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Neurodevelopmental disorder with or without autism or seizures
RS767241290 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS767241917 SOX5 Health Risk Pathogenic/Likely pathogenic Lamb-Shaffer syndrome, Lamb-Shaffer syndrome
RS767242562 CTRC Health Risk Pathogenic Hereditary pancreatitis, Hereditary pancreatitis
RS767243173 SNF8 Health Risk Pathogenic SNF8-associated disease, Developmental and epileptic encephalopathy 115
RS767243629 CHRNB2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS767243766 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS767245071 TYMP Health Risk Pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial neurogastrointestinal encephalomyopathy
RS767245568 SLC12A6 Health Risk Pathogenic —
RS767245893 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS767246037 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS767246053 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS767246962 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia
RS767247397 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS767247521 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS767247726 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS767247980 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS767247987 ERCC6 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1
RS767248510 CCM2 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation 2, CCM2-related disorder
RS7672497 MTTP Health Risk Conflicting classifications of pathogenicity Abetalipoproteinaemia, Abetalipoproteinaemia
RS767249944 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C
RS767250750 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS767250881 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS767251022 CSF3R Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS767252128 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS767252151 COL5A2 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Ehlers-Danlos syndrome
RS767252235 FOLR1 Health Risk Pathogenic Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS767252448 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS767253467 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS767254003 POLE Health Risk Pathogenic —
RS767255075 SLC26A4 Health Risk Likely pathogenic Hearing impairment, Hearing impairment
RS767255289 FZD4 Health Risk Pathogenic —
RS767255426 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS767255996 HELZ2 Health Risk Conflicting classifications of pathogenicity —
RS767257316 ATP6V0A2 Health Risk Pathogenic ALG9 congenital disorder of glycosylation, Cutis laxa with osteodystrophy
RS767257701 IDH3A Health Risk Likely pathogenic Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
RS767257985 CHD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767258184 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS767258350 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS767258629 NPR2 Health Risk Pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS767258671 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS767258888 TMPRSS15 Health Risk Pathogenic/Likely pathogenic Enterokinase deficiency, Enterokinase deficiency
RS767259019 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS767259131 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS767259718 HSD17B3 Health Risk Pathogenic Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
RS767260373 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS767260608 SETBP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 29
RS767260655 LPL Health Risk Likely pathogenic Hyperlipoproteinemia, type I
RS767261854 FLG Health Risk Pathogenic/Likely pathogenic Dermatitis, atopic
RS767262358 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS76726265 TTC21B Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Jeune thoracic dystrophy
RS767263669 VWA1 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS767263985 SLC52A3 Health Risk Likely pathogenic Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases
RS767264288 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS767264426 PRMT9 Health Risk Pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS767264817 ZNF513 Health Risk Conflicting classifications of pathogenicity —
RS767265734 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS767266728 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS767267288 B3GALNT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
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