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
RS1840283586 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS184028635 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Genitopatellar syndrome
RS184028774 XDH Health Risk Conflicting classifications of pathogenicity Hereditary xanthinuria type 1, Xanthinuria type II
RS1840290349 PTCH1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1840292996 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS184029731 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS184031236 ADGRV1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1840319154 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS184033132 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS184033385 NOTCH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1840335901 MICU1 Health Risk Pathogenic Proximal myopathy with extrapyramidal signs, Proximal myopathy with extrapyramidal signs
RS1840343718 WAC Health Risk Pathogenic —
RS184039278 CRY1 Health Risk association; risk factor Delayed sleep phase syndrome, susceptibility to
RS1840398430 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS184043065 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Inborn genetic diseases
RS184046854 FERMT1 Health Risk Conflicting classifications of pathogenicity Kindler syndrome, Kindler syndrome
RS1840507738 ARFGEF1 Health Risk Pathogenic Seizure, DEVELOPMENTAL DELAY
RS1840513520 MYO3A Health Risk Likely pathogenic —
RS1840520188 ARFGEF1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Global developmental delay
RS184053962 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS1840585492 ARFGEF1 Health Risk Pathogenic Delayed speech and language development, Atypical behavior
RS1840652151 STXBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1840653229 STXBP1 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1840653547 STXBP1 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1840655911 STXBP1 Health Risk Likely pathogenic Infantile epilepsy syndrome, Infantile epilepsy syndrome
RS184065600 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS1840656429 STXBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1840656743 STXBP1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS184074326 LDHA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
RS184078016 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myopathy
RS184078045 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Myopathy
RS1840794100 NTNG2 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with behavioral abnormalities, absent speech
RS1840809914 LRMDA Health Risk Pathogenic —
RS184083285 APOA4 Health Risk Conflicting classifications of pathogenicity —
RS1840850607 ABCA1 Health Risk Pathogenic —
RS1840868164 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS184087573 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS184088468 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS1840892582 CDH23 Health Risk Pathogenic —
RS184092629 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS1840934191 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Upshaw-Schulman syndrome
RS184095519 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS184095877 CHRNA1 Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Congenital myasthenic syndrome
RS1840967817 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1840970680 STXBP1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 4
RS1840976417 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS184099248 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS184100321 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS1841026473 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS1841030849 STXBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1841061596 WAC Health Risk Pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS184106392 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, TH-related disorder
RS1841070214 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS1841071047 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1841075494 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS184107606 WDR87 Health Risk Conflicting classifications of pathogenicity —
RS1841077120 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1841133653 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1841137524 STXBP1 Health Risk Pathogenic —
RS1841140785 STXBP1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1841141204 STXBP1 Health Risk Pathogenic/Likely pathogenic Autism spectrum disorder, Developmental and epileptic encephalopathy
RS1841142873 STXBP1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1841148776 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS1841155526 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS184116434 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1841170844 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS184119144 ZNF513 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1841212177 CDH23 Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1841214135 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS1841217203 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS184123332 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS184123387 ABCC9 Health Risk Conflicting classifications of pathogenicity Hypertrichotic osteochondrodysplasia Cantu type, Dilated cardiomyopathy 1O
RS1841237663 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS1841238690 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1841239642 STXBP1 Health Risk Likely pathogenic Early-infantile DEE, Intellectual disability
RS1841240415 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS1841274813 PAX5 Health Risk Likely pathogenic Acute lymphoid leukemia, Acute lymphoid leukemia
RS184127567 GMPPB Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS184127828 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS184127858 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS184128357 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS1841284648 STXBP1 Health Risk Likely pathogenic Infantile epilepsy syndrome, Infantile epilepsy syndrome
RS1841286087 STXBP1 Health Risk Pathogenic —
RS1841289209 STXBP1 Health Risk Pathogenic Infantile epilepsy syndrome, Early-infantile DEE
RS1841290957 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS1841291126 STXBP1 Health Risk Pathogenic —
RS1841291684 STXBP1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS184130759 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1841308758 CDH23 Health Risk Pathogenic —
RS184131049 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS1841311708 CDH23 Health Risk Pathogenic —
RS1841315122 CDH23 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1841317825 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS184131819 POMT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS1841322999 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1841329871 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1841332247 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS184136353 NDUFV1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS1841396845 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1841399401 WAC Health Risk Likely pathogenic —
« Prev 1 ... 1277 1278 1279 1280 1281 1282 1283 ... 4509 Next »

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

Get Started Free →