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
RS2552085303 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552085411 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552085447 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552089283 NEB Health Risk Pathogenic/Likely pathogenic Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS2552089492 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552089569 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552090105 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2552090974 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552091050 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552091118 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552091132 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552091156 NEB Health Risk Pathogenic/Likely pathogenic Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS2552091164 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552092315 SYNE1 Health Risk Pathogenic —
RS2552092384 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS2552093059 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552093086 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552093096 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552093415 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552094523 CACNA1C Health Risk Pathogenic —
RS2552094742 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552095504 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2552096752 PHOX2B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552096778 PHOX2B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552096795 PHOX2B Health Risk Pathogenic Neuroblastoma, susceptibility to
RS2552096798 PHOX2B Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552096799 PHOX2B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PHOX2B-related disorder
RS2552096800 PHOX2B Health Risk Pathogenic Neuroblastoma, susceptibility to
RS2552096804 PHOX2B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552096816 PHOX2B Health Risk Likely pathogenic Neuroblastoma, susceptibility to
RS2552096826 PHOX2B Health Risk Pathogenic PHOX2B-related disorder, PHOX2B-related disorder
RS2552096829 PHOX2B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552096830 PHOX2B Health Risk Likely pathogenic Neuroblastoma, susceptibility to
RS2552096835 PHOX2B Health Risk Pathogenic PHOX2B-related disorder, PHOX2B-related disorder
RS2552096836 PHOX2B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552096838 PHOX2B Health Risk Pathogenic Hirschsprung disease-ganglioneuroblastoma syndrome, Hereditary cancer-predisposing syndrome
RS2552096841 PHOX2B Health Risk Pathogenic Central hypoventilation syndrome, congenital
RS2552096861 PHOX2B Health Risk Likely pathogenic Central hypoventilation syndrome, congenital
RS2552096877 PHOX2B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552096878 PHOX2B Health Risk Likely pathogenic —
RS2552096897 PHOX2B Health Risk Pathogenic Haddad syndrome, Haddad syndrome
RS2552096903 PHOX2B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552097008 PHOX2B Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552097009 PHOX2B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552097010 PHOX2B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552097014 PHOX2B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552097023 PHOX2B Health Risk Likely pathogenic Central hypoventilation syndrome, congenital
RS2552097044 PHOX2B Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Haddad syndrome
RS2552097163 PHOX2B Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552097167 PHOX2B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552097168 PHOX2B Health Risk Pathogenic Haddad syndrome, Haddad syndrome
RS2552097175 PHOX2B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552106061 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2552106549 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2552106937 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552107867 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552108038 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552108187 BRCA1 Health Risk Conflicting classifications of pathogenicity —
RS2552108615 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552108651 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552108670 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552108726 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552108732 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2552108781 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552108787 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552108882 NEB Health Risk Pathogenic Nemaline myopathy, Nemaline myopathy
RS2552109487 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552111076 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2552112201 PNPLA8 Health Risk Likely pathogenic Mitochondrial myopathy-lactic acidosis-deafness syndrome, Mitochondrial myopathy-lactic acidosis-deafness syndrome
RS2552113129 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552113419 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552113494 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552113594 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS2552113620 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552113740 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2552114118 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552114596 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2552114625 BRCA1 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Breast and/or ovarian cancer
RS2552115803 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552116499 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552116538 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552116797 NEB;RIF1 Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552116988 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552117507 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552117554 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552117623 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552117876 PNPLA8 Health Risk Pathogenic/Likely pathogenic PNPLA8-related disorder, Mitochondrial myopathy-lactic acidosis-deafness syndrome
RS2552117906 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552117928 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552117947 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552119120 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552123951 NEB Health Risk Pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2552124031 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552124435 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552124458 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552130085 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2552131173 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552131294 NEB Health Risk Pathogenic Nemaline myopathy, Nemaline myopathy
RS2552131463 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2552132140 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
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