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
RS587779686 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779687 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779688 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779689 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779690 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779691 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779692 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779693 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779694 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779695 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779696 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779697 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779698 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779699 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779700 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779701 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779702 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779703 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779704 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779705 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779706 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779707 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779708 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779709 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779710 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779711 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779712 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779713 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779714 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779715 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779716 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779717 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779718 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779719 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779720 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779721 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779722 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779723 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779732 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS587779733 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS587779736 TMEM67 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS587779742 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin Siris/Intellectual Disability, Inborn genetic diseases
RS587779744 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS587779745 ARID1B Health Risk Pathogenic Coffin Siris/Intellectual Disability, Coffin Siris/Intellectual Disability
RS587779746 ARID1B Health Risk Pathogenic Coffin Siris/Intellectual Disability, Coffin Siris/Intellectual Disability
RS587779747 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ARID1B-related disorder
RS587779750 SMARCA4 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 16
RS587779752 LMBR1;ZRS Health Risk Pathogenic/Likely pathogenic Triphalangeal thumb, Polydactyly of a triphalangeal thumb
RS587779765 TGM1 Health Risk Pathogenic Lamellar ichthyosis, Lamellar ichthyosis
RS587779766 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, Sleep apnea
RS587779767 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, Sleep apnea
RS587779768 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, Sleep apnea
RS587779769 ACTB Health Risk Conflicting classifications of pathogenicity Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS587779770 ACTB Health Risk Pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS587779771 ACTB Health Risk Likely pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS587779772 ACTB Health Risk Conflicting classifications of pathogenicity Baraitser-Winter syndrome 1, Baraitser-Winter syndrome
RS587779773 ACTB Health Risk Pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS587779774 ACTB Health Risk Pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome
RS587779775 ACTB Health Risk Pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS587779776 ACTB Health Risk Pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS587779777 ACTB Health Risk Likely pathogenic Baraitser-Winter syndrome 1, ACTB-related BAFopathy
RS587779778 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS587779779 PET100 Health Risk Pathogenic/Likely pathogenic Congenital lactic acidosis, Mitochondrial complex IV deficiency
RS587779780 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS587779783 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial multiple polyposis syndrome
RS587779786 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS587779789 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS587779790 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS587779791 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS587779794 APC Health Risk Pathogenic/Likely pathogenic Familial multiple polyposis syndrome, Hereditary cancer-predisposing syndrome
RS587779796 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS587779798 APC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS587779799 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS587779800 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ovarian cancer
RS587779801 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS587779803 APC Health Risk Pathogenic/Likely pathogenic Classic or attenuated familial adenomatous polyposis, Hereditary cancer-predisposing syndrome
RS587779804 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS587779805 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS587779806 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS587779811 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS587779812 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587779813 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587779815 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587779816 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587779817 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587779818 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587779820 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587779822 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587779823 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS587779824 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587779825 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS587779826 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587779828 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS587779829 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587779833 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587779834 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587779836 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587779838 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS587779841 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587779842 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
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