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
RS2507686230 CTNS Health Risk Pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS2507686855 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS2507691218 VAMP2 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
RS2507691699 ALOX12B Health Risk Pathogenic —
RS2507696018 CTNS Health Risk Pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS2507697337 CTNS Health Risk Pathogenic Inborn genetic diseases, Ocular cystinosis
RS2507707263 ALOX12B Health Risk Likely pathogenic ALOX12B-related disorder, ALOX12B-related disorder
RS2507717304 TMEM107 Health Risk Likely pathogenic —
RS2507721405 ENO3 Health Risk Likely pathogenic Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency
RS2507724069 GAN Health Risk Pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS2507724270 GAN Health Risk Likely pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS2507724877 TMEM107 Health Risk Pathogenic —
RS2507728999 GAN Health Risk Pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS2507731785 MBTPS1 Health Risk Likely pathogenic —
RS2507733062 GAN Health Risk Pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS2507735150 GAN Health Risk Pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS2507735349 GAN Health Risk Likely pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS2507738804 VAC14 Health Risk Likely pathogenic Striatonigral degeneration, childhood-onset
RS2507741403 CTNS Health Risk Likely pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS2507741451 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS2507742346 CTNS Health Risk Pathogenic/Likely pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS2507742712 CTNS Health Risk Pathogenic Nephropathic cystinosis, Ocular cystinosis
RS2507745233 CTNS Health Risk Conflicting classifications of pathogenicity Ocular cystinosis, Juvenile nephropathic cystinosis
RS2507745496 CTNS Health Risk Pathogenic Inborn genetic diseases, Ocular cystinosis
RS2507745639 CTNS Health Risk Conflicting classifications of pathogenicity Ocular cystinosis, Juvenile nephropathic cystinosis
RS2507745996 CTNS Health Risk Pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS2507746889 GAN Health Risk Pathogenic Inborn genetic diseases, Giant axonal neuropathy 1
RS2507747114 GAN Health Risk Pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS2507758369 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS2507760503 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS2507760798 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS2507761348 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS2507761574 CTNS Health Risk Pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS2507762791 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS2507762815 CTNS Health Risk Likely pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS2507763369 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS2507764701 CTNS Health Risk Likely pathogenic Juvenile nephropathic cystinosis, Ocular cystinosis
RS2507765273 ALOXE3 Health Risk Pathogenic —
RS2507765998 C1QBP Health Risk Pathogenic —
RS2507770002 C1QBP Health Risk Pathogenic —
RS2507775363 CTNS Health Risk Pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS2507776613 CTNS Health Risk Likely pathogenic Ocular cystinosis, Ocular cystinosis
RS2507776875 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS2507777392 CTNS Health Risk Likely pathogenic Cystinosis, Cystinosis
RS2507788947 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS2507789960 CTNS Health Risk Pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS2507790386 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS2507793584 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS2507793590 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS2507793620 CTNS Health Risk Pathogenic Inborn genetic diseases, Ocular cystinosis
RS2507794316 CTNS Health Risk Pathogenic Cystinosis, Cystinosis
RS2507794658 CTNS Health Risk Pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS2507815078 VAC14 Health Risk Pathogenic —
RS2507816770 PARN Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 6
RS2507828594 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS2507830764 HYDIN Health Risk Likely pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS2507833751 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS2507835305 IFT140 Health Risk Likely pathogenic Retinitis pigmentosa 80, Retinitis pigmentosa 80
RS2507839621 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2507840834 PIEZO1 Health Risk Likely pathogenic PIEZO1-related disorder, PIEZO1-related disorder
RS2507842652 PIEZO1 Health Risk Likely pathogenic —
RS2507842884 PIEZO1 Health Risk Pathogenic —
RS2507843944 PCDHGC4 Health Risk Pathogenic Neurodevelopmental disorder with poor growth and skeletal anomalies, Neurodevelopmental disorder with poor growth and skeletal anomalies
RS2507853082 PIEZO1 Health Risk Likely pathogenic Diffuse lymphatic malformation, Diffuse lymphatic malformation
RS2507854281 PIEZO1 Health Risk Likely pathogenic Lymphatic malformation 6, Lymphatic malformation 6
RS2507857689 PIEZO1 Health Risk Pathogenic —
RS2507858296 CHRNB1 Health Risk Likely pathogenic Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A
RS2507858850 CHRNB1 Health Risk Likely pathogenic Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A
RS2507859724 PARN Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS2507861194 PIEZO1 Health Risk Likely pathogenic Lymphatic malformation 6, Lymphatic malformation 6
RS2507862720 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2507863332 HES7 Health Risk Likely pathogenic Spondylocostal dysostosis 4, autosomal recessive
RS2507865187 IFT140 Health Risk Likely pathogenic Retinitis pigmentosa 80, Retinitis pigmentosa 80
RS2507866849 PARN Health Risk Likely pathogenic —
RS2507867198 PARN Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 6
RS2507867448 PARN Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 6
RS2507868188 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS2507869681 CTC1 Health Risk Likely pathogenic CTC1-related disorder, CTC1-related disorder
RS2507869911 PIEZO1 Health Risk Pathogenic Lymphatic malformation 6, Lymphatic malformation 6
RS2507871693 HYDIN Health Risk Likely pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS2507872015 CHRNB1 Health Risk Likely pathogenic Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A
RS2507872027 CHRNB1 Health Risk Pathogenic Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A
RS2507872174 CHRNB1 Health Risk Pathogenic Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A
RS2507876961 PIEZO1 Health Risk Pathogenic —
RS2507878942 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2507879973 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2507880932 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2507880934 PIEZO1 Health Risk Likely pathogenic —
RS2507882152 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2507882445 HYDIN Health Risk Pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS2507894027 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2507896629 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2507897028 CTC1 Health Risk Likely pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1, Cerebroretinal microangiopathy with calcifications and cysts 1
RS2507899500 PIEZO1 Health Risk Pathogenic Lymphatic malformation 6, Lymphatic malformation 6
RS2507900203 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2507900469 PIEZO1 Health Risk Likely pathogenic —
RS2507903413 PCDHGC4 Health Risk Likely pathogenic Neurodevelopmental disorder with poor growth and skeletal anomalies, Neurodevelopmental disorder with poor growth and skeletal anomalies
RS2507907005 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2507907830 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2507908738 PIEZO1 Health Risk Likely pathogenic PIEZO1-related disorder, PIEZO1-related disorder
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