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
RS2076530 BTNL2 Health Risk risk factor Sarcoidosis, susceptibility to
RS2076550971 LAMB3 Health Risk Pathogenic —
RS2076615 PADI2 Health Risk association Rheumatoid arthritis, Abnormal pulmonary interstitial morphology
RS2076654690 ARSG Health Risk Pathogenic —
RS2076693372 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Intellectual disability
RS2076695154 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2076721233 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2076738 TG Health Risk Pathogenic —
RS2076739 TG Health Risk Pathogenic Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS2076743263 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2076751251 ATP13A2 Health Risk Likely pathogenic Autosomal recessive spastic paraplegia type 78, Autosomal recessive spastic paraplegia type 78
RS2076754 NOD2 Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 1, Autoinflammatory syndrome
RS2076800953 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2076841806 PCDH15 Health Risk Likely pathogenic —
RS2076867354 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2076888595 ARL13B Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS2076895533 MAGT1 Health Risk Pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS2076901423 BRPF1 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS2076939980 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS2076941615 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2076941998 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS2076942520 ATP13A2 Health Risk Likely pathogenic Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS2076949269 ATP13A2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS2076957024 UNC13A Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, UNC13A-associated neurodevelopmental disorder
RS2076962370 ATP13A2 Health Risk Pathogenic Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS2076967147 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2076970587 ATP13A2 Health Risk Likely pathogenic Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS2076974450 COL6A3 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2076984121 MAGT1 Health Risk Pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS2076985517 UNC13A Health Risk Likely pathogenic Developmental regression, Delayed speech and language development
RS2076988126 BRPF1 Health Risk Pathogenic/Likely pathogenic —
RS2076991221 BRPF1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2076993987 BRPF1 Health Risk Pathogenic —
RS2076994968 BRPF1 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS2076997522 BRPF1 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS2077000019 BRPF1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2077001976 BRPF1 Health Risk Pathogenic —
RS2077002696 PCDH15 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2077005160 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2077005374 PCDH15 Health Risk Pathogenic —
RS2077007633 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2077025601 KANSL1 Health Risk Pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2077029293 BRIP1 Health Risk Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2077030288 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2077030784 MAGT1 Health Risk Pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS2077030838 KANSL1 Health Risk Likely pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2077033566 ARL13B Health Risk Conflicting classifications of pathogenicity Joubert syndrome 8, Inborn genetic diseases
RS2077034033 BRIP1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2077034404 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2077034919 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2077035315 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2077054122 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2077054270 KANSL1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2077055015 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Familial hypercholesterolemia
RS2077057318 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Cardiovascular phenotype
RS2077062359 BRPF1 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS2077066093 KANSL1 Health Risk Pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2077066926 KANSL1 Health Risk Likely pathogenic Squamous cell carcinoma of the head and neck, Squamous cell carcinoma of the head and neck
RS2077071992 BRPF1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2077088526 KANSL1 Health Risk Pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2077089395 KANSL1 Health Risk Likely pathogenic —
RS2077095472 MAGT1 Health Risk Conflicting classifications of pathogenicity X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS2077097661 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2077100185 BRPF1 Health Risk Likely pathogenic —
RS2077100499 BRPF1 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2077101479 BRPF1 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS2077109424 ATP13A2 Health Risk Likely pathogenic Autosomal recessive spastic paraplegia type 78, Autosomal recessive spastic paraplegia type 78
RS2077112267 OPHN1 Health Risk Likely pathogenic —
RS2077113045 LPIN2 Health Risk Pathogenic Majeed syndrome, Majeed syndrome
RS2077123571 SPATA7 Health Risk Pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS2077123914 SPATA7 Health Risk Pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS2077134911 SPATA7 Health Risk Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS2077137130 SPATA7 Health Risk Likely pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS2077138820 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Majeed syndrome
RS2077140472 CSGALNACT1 Health Risk Pathogenic Skeletal dysplasia, mild
RS2077159790 TTN Health Risk Pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2077166492 UBE3A Health Risk Likely pathogenic Angelman syndrome, Angelman syndrome
RS2077173386 SNHG14;UBE3A Health Risk Pathogenic —
RS2077187880 DMD Health Risk Conflicting classifications of pathogenicity —
RS2077192500 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2077193721 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS2077195468 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS2077209051 LPIN2 Health Risk Likely pathogenic Majeed syndrome, Majeed syndrome
RS2077221203 KANSL1 Health Risk Pathogenic Koolen-de Vries syndrome, KANSL1-related disorder
RS2077232183 LDLR Health Risk Pathogenic/Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2077233012 LDLR Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2077262520 C2orf69 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation deficiency 53, Combined oxidative phosphorylation deficiency 53
RS2077271255 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS2077272442 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2077273106 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2077275624 UBE3A Health Risk Likely pathogenic Angelman syndrome, Angelman syndrome
RS2077275747 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Cardiovascular phenotype
RS2077276411 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2077276612 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2077276693 LDLR Health Risk Pathogenic Cardiovascular phenotype, Familial hypercholesterolemia
RS2077280444 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Cardiovascular phenotype
RS2077282376 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2077282480 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Familial hypercholesterolemia
RS2077283982 NSUN3 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 48, Combined oxidative phosphorylation deficiency 48
RS2077284206 NSUN3 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 48, Combined oxidative phosphorylation deficiency 48
« Prev 1 ... 1593 1594 1595 1596 1597 1598 1599 ... 4509 Next »

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

Get Started Free →