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
RS759708484 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS759708614 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS759709025 HKDC1 Health Risk Likely pathogenic Nonsyndromic cleft lip palate, Nonsyndromic cleft lip palate
RS759709365 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS759709450 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS759709467 CDK5RAP2 Health Risk Pathogenic Microcephaly 3, primary
RS759711668 ZNF341 Health Risk Conflicting classifications of pathogenicity Hyper-IgE recurrent infection syndrome 3, autosomal recessive
RS759712763 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS759712974 TRIP13 Health Risk Pathogenic Oocyte maturation defect 9, Oocyte maturation defect 9
RS759713394 POU4F3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15
RS75971351 UMPS Health Risk Conflicting classifications of pathogenicity Hereditary orotic aciduria, type 1
RS759713604 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS75971372 FKTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS759714493 SHOC2 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS759714698 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS759715306 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS759720450 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS759722579 STAT1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS759724715 NT5C2 Health Risk Likely pathogenic Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45
RS759725715 PDZD7 Health Risk Conflicting classifications of pathogenicity PDZD7-related disorder, PDZD7-related disorder
RS759727498 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS759727721 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS759727960 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS759728549 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS759728732 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS759729258 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Polyps
RS759730085 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS759732362 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS759732945 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS759734767 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS759736399 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS759736443 CYP21A2 Health Risk Pathogenic —
RS759736526 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Melanoma-pancreatic cancer syndrome
RS759736838 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS759737599 TTN Health Risk Conflicting classifications of pathogenicity —
RS759737641 RTTN Health Risk Pathogenic —
RS759739044 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Benign familial hematuria
RS759739482 RETREG1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS759739899 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS759740402 OCA2 Health Risk Likely pathogenic Nonsyndromic Oculocutaneous Albinism, Nonsyndromic Oculocutaneous Albinism
RS759740734 GRIA3 Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability 94, Thyroid cancer
RS759741090 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS759743089 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS759743111 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS759743897 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS759745220 BVES Health Risk Likely pathogenic —
RS759746440 TMEM67 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS759746669 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS759746961 CNGB3 Health Risk Pathogenic —
RS759747476 DNMT3A Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS759748510 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS759748655 TTBK1 Health Risk Likely pathogenic Childhood-onset schizophrenia, Childhood-onset schizophrenia
RS759748892 CNGB3 Health Risk Pathogenic/Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS759749364 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS759749626 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Familial cancer of breast
RS759751670 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS759752477 PRPH2 Health Risk Pathogenic Pigmentary retinal dystrophy, PRPH2-related disorder
RS759753811 SCN8A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS759754319 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, SI-related disorder
RS759754640 CEP78 Health Risk Pathogenic Cone-rod dystrophy and hearing loss 1, Cone-rod dystrophy and hearing loss 1
RS759754878 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Inborn genetic diseases
RS759758484 ALPL Health Risk Pathogenic/Likely pathogenic Childhood hypophosphatasia, Hypophosphatasia
RS759759863 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS759760029 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS759760077 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS759760533 POLR1C Health Risk Conflicting classifications of pathogenicity —
RS759761559 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
RS759761847 ADGRV1 Health Risk Pathogenic —
RS759761851 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759761915 USB1 Health Risk Pathogenic Poikiloderma with neutropenia, Poikiloderma with neutropenia
RS759762840 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS759763539 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS759763673 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS1-related disorder
RS759763823 UAP1L1 Health Risk Conflicting classifications of pathogenicity —
RS759764582 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS759764709 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS759766243 WWOX Health Risk Pathogenic/Likely pathogenic Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS759767381 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759767392 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS759768852 SLC34A3 Health Risk Likely pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS759771909 ECHS1 Health Risk Conflicting classifications of pathogenicity —
RS759771981 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS759775013 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS759775100 SAMD9 Health Risk Pathogenic Monosomy 7 myelodysplasia and leukemia syndrome 2, Monosomy 7 myelodysplasia and leukemia syndrome 2
RS759775665 KCNH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KCNH1-related disorder
RS759775666 ACADVL;DVL2 Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder
RS759776061 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, KCNQ3-related disorder
RS75977701 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS759777823 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
RS759778745 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS759778893 FOXP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759779733 BRWD3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 93
RS759781200 CNGA1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 49
RS759781800 ATP1A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial hemiplegic migraine
RS759781877 ABCC2 Health Risk Pathogenic Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS759782529 PRDM5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS759783486 WDR19 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS759785462 SH3TC2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4C
RS759786102 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS759786446 ERLIN1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 62, Hereditary spastic paraplegia
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