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
RS749946303 SLC29A3 Health Risk Pathogenic H syndrome, H syndrome
RS749947335 ATR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749947672 RAB11B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749947894 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749948143 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Inborn genetic diseases
RS749948570 ASCC3 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 81
RS749950017 TMPRSS15 Health Risk Pathogenic/Likely pathogenic Enterokinase deficiency, Enterokinase deficiency
RS749951287 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Congenital myopathy with internal nuclei and atypical cores
RS749951528 GABRG2 Health Risk Pathogenic Febrile seizures, familial
RS749951964 LEMD3 Health Risk Pathogenic —
RS749952316 GNPTG Health Risk Likely pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS749952755 NPR2 Health Risk Pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS749953234 KIF26B Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS749954063 MARS1 Health Risk Conflicting classifications of pathogenicity Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U
RS749956288 ADGRV1 Health Risk Pathogenic Usher syndrome, Usher syndrome
RS749956542 PEX2 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B
RS749956849 IFNGR1 Health Risk Pathogenic Immunodeficiency 27A, Inherited Immunodeficiency Diseases
RS749959056 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS749959440 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS749960559 MYOC Health Risk Likely pathogenic Open-angle glaucoma, Open-angle glaucoma
RS749961187 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS749961489 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS749963147 SH3TC2 Health Risk Pathogenic —
RS749963273 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS749963436 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS749963653 HSPB1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS749965480 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spondylocarpotarsal synostosis syndrome
RS749965674 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS749965891 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS749966284 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
RS749966973 TMEM147 Health Risk Pathogenic/Likely pathogenic Poor speech, Severe intellectual disability
RS749968109 RFT1 Health Risk Likely pathogenic RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
RS749969667 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, CHD2-related disorder
RS749969789 FERRY3 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 66
RS749970078 ARID1A Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, ARID1A-related disorder
RS749973572 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS749973847 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS749974211 LARGE1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS749974697 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS749974929 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1B
RS749975104 UGDH Health Risk Pathogenic/Likely pathogenic Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS749976222 PIEZO1 Health Risk Likely pathogenic Lymphatic malformation 6, Lymphatic malformation 6
RS749976725 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, EHMT1-related disorder
RS749978235 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS749979249 EP300 Health Risk Conflicting classifications of pathogenicity Menke-Hennekam syndrome 2, Rubinstein-Taybi syndrome due to CREBBP mutations
RS749979474 TYR Health Risk Pathogenic/Likely pathogenic Albinism, Oculocutaneous albinism type 1A
RS749979841 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS749980248 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS749980306 GLB1 Health Risk Pathogenic/Likely pathogenic Infantile GM1 gangliosidosis, GM1 gangliosidosis type 2
RS749980410 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS749980674 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS749980719 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS749980792 POMK Health Risk Pathogenic/Likely pathogenic Limb-girdle muscular dystrophy due to POMK deficiency, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS749980819 SLC5A6 Health Risk Pathogenic/Likely pathogenic Neurodegeneration, infantile-onset
RS749981093 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS749981979 GALNT3 Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS749982150 ADGRV1 Health Risk Likely pathogenic Febrile seizures, familial
RS749983428 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS749985039 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS749986676 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS749987061 COLEC10 Health Risk Pathogenic 3MC syndrome 3, 3MC syndrome 3
RS749987648 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS749988580 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS749988739 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS749989499 ALPL Health Risk Conflicting classifications of pathogenicity Decreased circulating alkaline phosphatase activity, Adult hypophosphatasia
RS749989641 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS749990018 CNGA1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS749991162 HARS1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3B, Usher syndrome type 3B
RS749992393 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS749992643 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS749993404 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Inborn genetic diseases
RS749993527 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS749994173 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B
RS749994791 TBC1D24 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 16
RS749995118 CHRNG Health Risk Conflicting classifications of pathogenicity Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS74999515 ORC6 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 3, Meier-Gorlin syndrome 3
RS749995320 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS749995448 GRIK2 Health Risk Pathogenic Intellectual disability, autosomal recessive 6
RS749995672 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS749996046 NEU1 Health Risk Pathogenic/Likely pathogenic Sialidosis, Sialidosis
RS749997451 NRROS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749998722 VPS13D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750000204 KCNQ5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750000952 PMP22 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS750001158 MYPN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1KK
RS750003253 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS750003586 SLC25A3 Health Risk Conflicting classifications of pathogenicity —
RS750003804 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS750003992 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS750004710 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS750005344 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS750005711 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 64
RS750005732 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS750005846 WNT1 Health Risk Likely pathogenic WNT1-related disorder, WNT1-related disorder
RS750006303 CPS1 Health Risk Conflicting classifications of pathogenicity CPS1-related disorder, Congenital hyperammonemia
RS750007670 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS750008778 DOCK11 Health Risk Likely pathogenic DOCK11 deficiency, Autoinflammatory disease
RS750009006 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Usher syndrome type 1D
RS750010018 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS750010764 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
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