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
RS267607510 GFAP Health Risk Conflicting classifications of pathogenicity Alexander disease, Alexander disease
RS267607511 GFAP Health Risk Pathogenic Alexander disease, Alexander disease
RS267607512 GFAP Health Risk Pathogenic Alexander disease, Alexander disease
RS267607514 GFAP Health Risk Pathogenic Alexander disease, Alexander disease
RS267607515 GFAP Health Risk Likely pathogenic Alexander disease, Alexander disease
RS267607518 GFAP Health Risk Conflicting classifications of pathogenicity Alexander disease, Alexander disease
RS267607526 GFAP Health Risk Conflicting classifications of pathogenicity Alexander disease, Alexander disease
RS267607534 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NEFH-related disorder
RS267607538 NEFL Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 1F
RS267607539 LMNA Health Risk Likely pathogenic Emery-Dreifuss muscular dystrophy 2, autosomal dominant
RS267607540 LMNA Health Risk Pathogenic/Likely pathogenic Emery-Dreifuss muscular dystrophy 2, autosomal dominant
RS267607542 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS267607543 LMNA Health Risk Conflicting classifications of pathogenicity Familial partial lipodystrophy, Dunnigan type
RS267607545 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Emery-Dreifuss muscular dystrophy 2
RS267607546 LMNA Health Risk Pathogenic LMNA-related disorder, LMNA-related disorder
RS267607547 LMNA Health Risk Pathogenic Hutchinson-Gilford syndrome, Hutchinson-Gilford syndrome
RS267607548 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Primary dilated cardiomyopathy
RS267607550 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS267607552 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, 8 conditions
RS267607554 LMNA Health Risk Pathogenic Primary dilated cardiomyopathy, Cardiovascular phenotype
RS267607555 LMNA Health Risk Pathogenic/Likely pathogenic Familial partial lipodystrophy, Dunnigan type
RS267607557 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS267607559 LMNA Health Risk Likely pathogenic Heart-hand syndrome, Slovenian type
RS267607560 LMNA Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS267607561 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS267607564 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS267607567 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS267607569 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS267607570 LMNA Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1A, Cardiovascular phenotype
RS267607571 LMNA Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS267607572 LMNA Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS267607573 LMNA Health Risk Pathogenic Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS267607574 LMNA Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiomyopathy
RS267607575 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS267607576 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Primary dilated cardiomyopathy
RS267607577 LMNA Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Primary dilated cardiomyopathy
RS267607578 LMNA Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1A
RS267607581 LMNA Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1A
RS267607582 LMNA Health Risk Likely pathogenic Heart-hand syndrome, Slovenian type
RS267607584 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS267607587 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS267607588 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Papillary renal cell carcinoma type 1
RS267607589 LMNA Health Risk Pathogenic Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A
RS267607590 LMNA Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS267607591 LMNA Health Risk Pathogenic/Likely pathogenic Lipodystrophy, Charcot-Marie-Tooth disease type 2
RS267607592 LMNA Health Risk Pathogenic Neuromuscular disease, Charcot-Marie-Tooth disease type 2
RS267607593 LMNA Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Cardiovascular phenotype
RS267607594 LMNA Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS267607597 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS267607598 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Emery-Dreifuss muscular dystrophy 2
RS267607599 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS267607600 LMNA Health Risk Pathogenic Congenital muscular dystrophy due to LMNA mutation, Cardiovascular phenotype
RS267607603 LMNA Health Risk Likely pathogenic Familial partial lipodystrophy, Dunnigan type
RS267607606 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, 11 conditions
RS267607608 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Congenital muscular dystrophy due to LMNA mutation
RS267607609 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, 7 conditions
RS267607613 LMNA Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Congenital muscular dystrophy due to LMNA mutation
RS267607614 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS267607615 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS267607617 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Dilated cardiomyopathy 1A
RS267607618 LMNA Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS267607620 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS267607622 LMNA Health Risk Pathogenic Dilated cardiomyopathy 1A, Charcot-Marie-Tooth disease type 2
RS267607623 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS267607627 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS267607629 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS267607631 LMNA Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS267607632 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Emery-Dreifuss muscular dystrophy 2
RS267607634 LMNA Health Risk Conflicting classifications of pathogenicity Muscular dystrophy, Charcot-Marie-Tooth disease type 2
RS267607636 LMNA Health Risk Likely pathogenic —
RS267607637 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS267607638 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS267607639 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS267607640 LMNA Health Risk Pathogenic Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS267607644 LMNA Health Risk Pathogenic/Likely pathogenic Muscular dystrophy, Charcot-Marie-Tooth disease type 2
RS267607645 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS267607646 LMNA Health Risk Pathogenic Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS267607649 LMNA Health Risk Pathogenic —
RS267607661 KRT5 Health Risk Likely pathogenic —
RS267607681 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS267607689 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS267607690 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS267607691 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS267607693 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS267607694 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS267607696 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS267607699 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS267607702 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS267607706 MLH1 Health Risk Likely pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS267607709 MLH1 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Colorectal cancer
RS267607710 MLH1 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS267607711 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS267607712 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS267607713 MLH1 Health Risk Likely pathogenic Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms
RS267607715 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS267607716 MLH1 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Colorectal cancer
RS267607717 MLH1 Health Risk Likely pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS267607718 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS267607719 MLH1 Health Risk Likely pathogenic Lynch syndrome, Gastric cancer
RS267607720 MLH1 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
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