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
RS2540100523 COL2A1 Health Risk Pathogenic —
RS2540100653 COL2A1 Health Risk Pathogenic —
RS2540100842 COL2A1 Health Risk Pathogenic —
RS2540100894 COL2A1 Health Risk Pathogenic Type 2 collagenopathy, Type 2 collagenopathy
RS2540100937 COL2A1 Health Risk Pathogenic —
RS2540102569 COL2A1 Health Risk Likely pathogenic COL2A1-related disorder, COL2A1-related disorder
RS2540102575 COL2A1 Health Risk Pathogenic —
RS2540102645 COL2A1 Health Risk Pathogenic —
RS2540102657 COL2A1 Health Risk Likely pathogenic —
RS2540103100 LPL Health Risk Likely pathogenic —
RS2540103224 LPL Health Risk Pathogenic —
RS2540103296 LPL Health Risk Likely pathogenic Hyperlipidemia, familial combined
RS2540104351 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2540104584 COL2A1 Health Risk Pathogenic —
RS2540104783 LPL Health Risk Pathogenic —
RS2540105508 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Marfan syndrome
RS2540105517 COL2A1 Health Risk Likely pathogenic —
RS2540105673 LPL Health Risk Likely pathogenic —
RS2540105677 COL2A1 Health Risk Pathogenic —
RS2540105684 LPL Health Risk Likely pathogenic —
RS2540105806 COL2A1 Health Risk Likely pathogenic —
RS2540105848 COL2A1 Health Risk Likely pathogenic —
RS2540105853 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2540105931 COL2A1 Health Risk Likely pathogenic —
RS2540106845 COL2A1 Health Risk Likely pathogenic —
RS2540106999 COL2A1 Health Risk Likely pathogenic —
RS2540107050 LPL Health Risk Likely pathogenic Hyperlipoproteinemia, type I
RS2540107072 COL2A1 Health Risk Pathogenic —
RS2540107104 LPL Health Risk Pathogenic —
RS2540107190 LPL Health Risk Pathogenic Cardiovascular phenotype, Hyperlipoproteinemia
RS2540107214 LPL Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hyperlipidemia
RS2540107223 LPL Health Risk Pathogenic Hyperlipoproteinemia, type I
RS2540107240 LPL Health Risk Likely pathogenic —
RS2540107246 LPL Health Risk Pathogenic —
RS2540107342 LPL Health Risk Pathogenic Hyperlipoproteinemia, type I
RS2540107709 COL2A1 Health Risk Pathogenic COL2A1-related disorder, COL2A1-related disorder
RS2540107719 PAK1 Health Risk Likely pathogenic Intellectual developmental disorder with macrocephaly, seizures
RS2540107727 COL2A1 Health Risk Likely pathogenic Spondyloepiphyseal dysplasia, Stanescu type
RS2540107776 COL2A1 Health Risk Likely pathogenic —
RS2540107843 COL2A1 Health Risk Pathogenic —
RS2540107881 COL2A1 Health Risk Pathogenic —
RS2540107941 COL2A1 Health Risk Likely pathogenic —
RS2540107950 COL2A1 Health Risk Pathogenic —
RS2540108712 COL2A1 Health Risk Pathogenic —
RS2540108803 COL2A1 Health Risk Likely pathogenic —
RS2540109673 LPL Health Risk Pathogenic Hyperlipidemia, familial combined
RS2540110308 COL2A1 Health Risk Likely pathogenic —
RS2540110405 COL2A1 Health Risk Pathogenic/Likely pathogenic 15 conditions, 15 conditions
RS2540110816 COL2A1 Health Risk Pathogenic —
RS2540110841 SDHAF2 Health Risk Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS2540111345 LPL Health Risk Pathogenic —
RS2540111400 LPL Health Risk Pathogenic —
RS2540111558 LPL Health Risk Pathogenic —
RS2540111594 LPL Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540111730 COL2A1 Health Risk Pathogenic Stickler syndrome, Stickler syndrome
RS2540111777 COL2A1 Health Risk Pathogenic —
RS2540111800 COL2A1 Health Risk Likely pathogenic See cases, See cases
RS2540111821 COL2A1 Health Risk Pathogenic —
RS2540111973 COL2A1 Health Risk Pathogenic —
RS2540111978 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2540113039 COL2A1 Health Risk Likely pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2540113158 COL2A1 Health Risk Pathogenic —
RS2540113244 COL2A1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2540113253 COL2A1 Health Risk Pathogenic —
RS2540113591 COL2A1 Health Risk Pathogenic —
RS2540113603 COL2A1 Health Risk Pathogenic —
RS2540113631 COL2A1 Health Risk Pathogenic Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia congenita
RS2540113782 COL2A1 Health Risk Pathogenic —
RS2540113868 COL2A1 Health Risk Likely pathogenic —
RS2540116264 FGFR2 Health Risk Likely pathogenic FGFR2-related disorder, FGFR2-related disorder
RS2540116695 COL2A1 Health Risk Pathogenic —
RS2540116704 COL2A1 Health Risk Pathogenic —
RS2540116801 COL2A1 Health Risk Likely pathogenic —
RS2540119287 SCN8A Health Risk Likely pathogenic Cognitive impairment with or without cerebellar ataxia, Cognitive impairment with or without cerebellar ataxia
RS2540119648 COL2A1 Health Risk Likely pathogenic —
RS2540119682 COL2A1 Health Risk Pathogenic —
RS2540119803 COL2A1 Health Risk Likely pathogenic —
RS2540119865 SCN8A Health Risk Likely pathogenic Cognitive impairment with or without cerebellar ataxia, Early-infantile DEE
RS2540121985 COL2A1 Health Risk Likely pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2540121990 COL2A1 Health Risk Pathogenic —
RS2540122013 ZMYND11 Health Risk Pathogenic Intellectual disability, autosomal dominant 30
RS2540122196 COL2A1 Health Risk Likely pathogenic COL2A1-related disorder, COL2A1-related disorder
RS2540122241 COL2A1 Health Risk Pathogenic —
RS2540122331 COL2A1 Health Risk Likely pathogenic Spondyloperipheral dysplasia, Type 2 collagenopathy
RS2540122346 COL2A1 Health Risk Pathogenic —
RS2540122419 FGFR2 Health Risk Likely pathogenic FGFR2-related craniosynostosis, Inborn genetic diseases
RS2540123164 ZMYND11 Health Risk Likely pathogenic —
RS2540123213 ZMYND11 Health Risk Likely pathogenic —
RS2540124016 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2540124080 SDHAF2 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2540124290 SDHAF2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2540124377 SDHAF2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2540124427 SDHAF2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2540124442 COL2A1 Health Risk Likely pathogenic —
RS2540124552 COL2A1 Health Risk Likely pathogenic —
RS2540124759 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2540124831 COL2A1 Health Risk Pathogenic —
RS2540124855 SDHAF2 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS2540124889 SDHAF2 Health Risk Pathogenic/Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2540124926 SDHAF2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
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