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
RS1567207841 PKD1 Health Risk Pathogenic —
RS1567208088 PKD1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease
RS1567208136 PKD1 Health Risk Pathogenic —
RS1567209616 PKD1 Health Risk Likely pathogenic —
RS1567209835 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1567209922 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1567210080 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567210630 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567211181 PKD1 Health Risk Pathogenic —
RS1567211807 PKD1 Health Risk Pathogenic —
RS1567212531 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567212569 ZP2 Health Risk Pathogenic Oocyte maturation defect 6, Oocyte maturation defect 6
RS1567212825 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1567212950 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group N
RS1567213009 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1567213083 PKD1 Health Risk Likely pathogenic —
RS1567213829 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1567213901 PKD1 Health Risk Pathogenic —
RS1567214097 MAPK8IP3 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA
RS1567214312 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1567214357 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1567214484 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1567214493 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1567214528 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1567214706 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1567215326 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1567215519 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1567215590 PKD1 Health Risk Likely pathogenic —
RS1567215600 XYLT1 Health Risk Pathogenic Desbuquois dysplasia 2, Desbuquois dysplasia 2
RS1567215613 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1567215615 XYLT1 Health Risk Pathogenic Desbuquois dysplasia 2, Desbuquois dysplasia 2
RS1567215646 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567215697 PKD1 Health Risk Pathogenic —
RS1567216323 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567216536 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1567216675 PKD1 Health Risk Pathogenic —
RS1567216902 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1567216906 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1567217128 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1567217194 PKD1 Health Risk Likely pathogenic —
RS1567217428 PKD1 Health Risk Pathogenic —
RS1567217830 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1567217898 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1567217908 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1567217931 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1567218036 PALB2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1567218104 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567218141 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1567218310 PKD1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease
RS1567218311 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1567218351 PKD1 Health Risk Likely pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS1567218409 ETFA Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1567218463 PALB2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1567218476 ETFA Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1567218614 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1567218624 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1567218690 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1567218910 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1567219034 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1567219111 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567219155 PKD1 Health Risk Pathogenic —
RS1567219527 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1567219735 PKD1 Health Risk Likely pathogenic —
RS1567220758 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1567220784 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1567220802 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1567221020 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1567221328 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1567221417 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1567221490 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1567221493 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1567221497 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1567221521 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1567221558 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1567221740 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1567221761 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary breast ovarian cancer syndrome
RS1567221840 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Ovarian neoplasm
RS1567221851 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1567222143 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1567222476 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1567222523 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1567222580 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1567222636 PALB2 Health Risk Likely pathogenic —
RS1567222725 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1567222943 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1567223015 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1567223045 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1567223192 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1567223942 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1567224232 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1567227059 USP7 Health Risk Conflicting classifications of pathogenicity —
RS1567230528 AP4E1 Health Risk Likely pathogenic Hereditary spastic paraplegia 51, Hereditary spastic paraplegia 51
RS1567232168 VPS33B Health Risk Likely pathogenic —
RS1567233098 PKD1 Health Risk Pathogenic —
RS1567233429 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS1567235879 SRRM2 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1567252467 TRAF7 Health Risk Pathogenic Cardiac, facial
RS1567252659 TRAF7 Health Risk Pathogenic Cardiac, facial
RS1567252663 TRAF7 Health Risk Conflicting classifications of pathogenicity Cardiac, facial
RS1567254067 TRAF7 Health Risk Pathogenic Cardiac, facial
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