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
RS766471384 CUL7 Health Risk Likely pathogenic 3M syndrome 1, 3M syndrome 1
RS766472184 CYFIP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766472965 COL4A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766473931 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS766473954 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS766474188 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Familial hypercholesterolemia
RS766474320 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS766474711 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS766474846 C1S Health Risk Pathogenic —
RS766474996 HSD3B2 Health Risk Pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
RS766475725 WDR19 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 4, Asphyxiating thoracic dystrophy 5
RS766476582 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS766476590 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS76647672 SLCO1B1 Health Risk Conflicting classifications of pathogenicity Rotor syndrome, Rotor syndrome
RS766478019 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS766478634 MED23 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 18
RS766478911 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS766479402 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Isolated Nonsyndromic Congenital Heart Disease
RS766480693 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS766481283 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS766481385 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia
RS766482965 COASY Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia, type 12
RS766483138 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS766483254 MYO18B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS76648342 SALL4 Health Risk Conflicting classifications of pathogenicity Duane-radial ray syndrome, SALL4-related disorder
RS766483572 C9 Health Risk Pathogenic —
RS766484260 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS766484375 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS766484593 PCARE Health Risk Pathogenic —
RS766484806 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS766485109 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, BNAR syndrome
RS766485358 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS766486676 SDHC Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
RS766487204 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS766487430 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS766487534 EIF2B2 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS766488017 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS766488520 AMHR2 Health Risk Likely pathogenic —
RS766488722 RAX2 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 6, Cone-rod dystrophy 11
RS766488790 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS766490931 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS766491340 SLC6A19 Health Risk Conflicting classifications of pathogenicity Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect
RS766491471 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS766491693 SERPING1 Health Risk Likely pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS766491800 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype
RS766491965 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS766492523 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS766492897 BSCL2 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 2, Neuronopathy
RS766493088 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS766494934 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS76649554 KCNH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS766495775 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, DHCR7-related disorder
RS766496010 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS766496842 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS766496861 MBD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766497093 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS76649725 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS766497653 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS766499417 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS766499430 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS766500689 EDARADD Health Risk Pathogenic Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type
RS766501515 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS766501537 ALAD Health Risk Conflicting classifications of pathogenicity Porphobilinogen synthase deficiency, Inborn genetic diseases
RS766502564 MYPN Health Risk Likely pathogenic Dilated cardiomyopathy 1KK, Congenital myopathy
RS766503699 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS766503812 COL11A2 Health Risk Pathogenic —
RS766504293 GATA2 Health Risk Conflicting classifications of pathogenicity Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome
RS766504801 ABCC6 Health Risk Conflicting classifications of pathogenicity ABCC6-related disorder, Arterial calcification
RS766504984 CTSC Health Risk Pathogenic/Likely pathogenic Papillon-Lefèvre syndrome, Periodontitis
RS766505643 ITGB4 Health Risk Pathogenic —
RS766505885 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Usher syndrome
RS766506181 DNMT3A Health Risk Likely pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS766506778 CUL4B Health Risk Pathogenic —
RS766508393 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS766508656 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS766509602 GBA2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spastic paraplegia
RS766509980 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766510287 TRAPPC2L Health Risk Pathogenic Encephalopathy, progressive
RS766510741 GTPBP3 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23
RS766511365 CDKL5 Health Risk Pathogenic —
RS766511848 COQ2 Health Risk Conflicting classifications of pathogenicity Multiple system atrophy 1, susceptibility to
RS766511916 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS766512058 SLC35C1 Health Risk Pathogenic/Likely pathogenic Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II
RS766512164 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS766512298 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS766513025 AP4M1 Health Risk Likely pathogenic Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50
RS766515269 IRAK4 Health Risk Pathogenic/Likely pathogenic Immunodeficiency 67, Immunodeficiency 67
RS766515318 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS766515787 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS766516611 NDUFS4 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 1
RS766516902 DLL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766516963 BRIP1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS766517126 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS766517983 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS766518199 CNNM4 Health Risk Conflicting classifications of pathogenicity Jalili syndrome, Jalili syndrome
RS766518430 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS766518936 RP1 Health Risk Pathogenic —
RS766518951 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS766519183 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS766520200 POP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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