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
RS2535217440 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS2535217792 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535218090 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535218168 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535229295 DDC Health Risk Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS2535233194 KCTD7 Health Risk Pathogenic Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS2535234176 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535234805 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535235100 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS2535236134 FARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS2535241170 KCTD7 Health Risk Likely pathogenic Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS2535241375 KCTD7 Health Risk Likely pathogenic Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS2535244117 COL11A2 Health Risk Likely pathogenic —
RS2535245730 MYO6 Health Risk Pathogenic —
RS2535251918 KCTD7 Health Risk Likely pathogenic Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS2535252328 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535252516 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS2535252563 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535255888 PCLO Health Risk Pathogenic —
RS2535258525 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS2535259357 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535259763 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535260111 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535262841 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535262912 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535263403 POR Health Risk Pathogenic/Likely pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
RS2535263844 PCLO Health Risk Pathogenic —
RS2535265747 MYO6 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 22, Autosomal dominant nonsyndromic hearing loss 22
RS2535270765 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS2535272417 COL11A2 Health Risk Likely pathogenic Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS2535272453 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535278164 SLC26A4 Health Risk Pathogenic —
RS2535278171 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS2535278229 SLC26A4 Health Risk Pathogenic —
RS2535278242 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS2535281371 SLC26A4 Health Risk Pathogenic —
RS2535281374 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS2535281478 SLC26A4 Health Risk Pathogenic —
RS2535281491 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535281505 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS2535281792 MYO6 Health Risk Pathogenic —
RS2535283390 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535288462 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS2535291703 SNX14 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20
RS2535293600 SLC26A4 Health Risk Pathogenic —
RS2535293614 SLC26A4 Health Risk Pathogenic —
RS2535293656 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535293661 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS2535293821 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535296231 SLC26A4 Health Risk Likely pathogenic —
RS2535296235 SLC26A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS2535296240 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Pendred syndrome
RS2535296290 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS2535296384 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535296401 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS2535296516 SLC26A4 Health Risk Pathogenic —
RS2535296518 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS2535296523 SLC26A4 Health Risk Pathogenic —
RS2535296566 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535296597 SLC26A4 Health Risk Pathogenic —
RS2535296624 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535297403 SLC26A4 Health Risk Pathogenic —
RS2535297456 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535297494 SLC26A4 Health Risk Pathogenic Pendred syndrome, Pendred syndrome
RS2535297502 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535297516 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535297531 SLC26A4 Health Risk Likely pathogenic —
RS2535297597 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535297933 PCLO Health Risk Likely pathogenic —
RS2535299208 ADNP Health Risk Likely pathogenic —
RS2535299890 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS2535307156 PMS2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535307633 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535308125 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535310006 SLC26A4 Health Risk Pathogenic Pendred syndrome, Pendred syndrome
RS2535310165 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, SLC26A4-related disorder
RS2535310311 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2535310325 SLC26A4 Health Risk Pathogenic —
RS2535310349 SLC26A4 Health Risk Likely pathogenic —
RS2535310397 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Pendred syndrome
RS2535310419 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535310608 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535310959 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535311207 PMS2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535315889 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2535317559 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535317564 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535317595 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS2535317617 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535317628 SLC26A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS2535317712 SLC26A4 Health Risk Pathogenic —
RS2535317755 SLC26A4 Health Risk Pathogenic —
RS2535317832 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535317969 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS2535319274 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS2535319280 SLC26A4 Health Risk Pathogenic Pendred syndrome, Pendred syndrome
RS2535319289 SLC26A4 Health Risk Likely pathogenic —
RS2535319355 SLC26A4 Health Risk Pathogenic —
RS2535319373 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS2535319419 SLC26A4 Health Risk Pathogenic —
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