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
RS121912642 LHX4 Health Risk Conflicting classifications of pathogenicity Short stature-pituitary and cerebellar defects-small sella turcica syndrome, Short stature-pituitary and cerebellar defects-small sella turcica syndrome
RS121912643 LHX4 Health Risk Pathogenic Short stature-pituitary and cerebellar defects-small sella turcica syndrome, Short stature-pituitary and cerebellar defects-small sella turcica syndrome
RS121912644 LHX4 Health Risk Pathogenic Short stature-pituitary and cerebellar defects-small sella turcica syndrome, Short stature-pituitary and cerebellar defects-small sella turcica syndrome
RS121912645 KLF11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 7, Maturity-onset diabetes of the young type 7
RS121912646 TG Health Risk Pathogenic Iodotyrosyl coupling defect, Congenital hypothyroidism
RS121912647 TG Health Risk Pathogenic Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS121912648 TG Health Risk Pathogenic Iodotyrosyl coupling defect, Congenital hypothyroidism
RS121912650 TG Health Risk Likely pathogenic Iodotyrosyl coupling defect, Autoimmune thyroid disease
RS121912651 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome
RS121912652 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome
RS121912653 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome 1, Li-Fraumeni syndrome
RS121912654 TP53 Health Risk Pathogenic/Likely pathogenic Hepatocellular carcinoma, Hereditary cancer-predisposing syndrome
RS121912655 TP53 Health Risk Conflicting classifications of pathogenicity Li-fraumeni-like syndrome, Hereditary cancer-predisposing syndrome
RS121912656 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome
RS121912657 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome
RS121912658 TP53 Health Risk Conflicting classifications of pathogenicity Li-fraumeni-like syndrome, Hereditary cancer-predisposing syndrome
RS121912659 TP53 Health Risk Conflicting classifications of pathogenicity Familial colorectal cancer, Non-Hodgkin lymphoma
RS121912660 TP53 Health Risk Conflicting classifications of pathogenicity Nasopharyngeal carcinoma, Li-Fraumeni syndrome
RS121912662 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome
RS121912663 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, 12 conditions
RS121912664 TP53 Health Risk Likely pathogenic ADRENOCORTICAL CARCINOMA, PEDIATRIC
RS121912665 TP53 Health Risk Conflicting classifications of pathogenicity Familial colorectal cancer, Hereditary cancer-predisposing syndrome
RS121912666 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome
RS121912667 TP53 Health Risk Pathogenic ADRENOCORTICAL CARCINOMA, PEDIATRIC
RS121912668 SLC5A1 Health Risk Likely pathogenic Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS121912670 CHRNG Health Risk Pathogenic Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS121912671 CHRNG Health Risk Likely pathogenic Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS121912672 CHRNG Health Risk Pathogenic Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS121912673 ACTC1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
RS121912674 ACTC1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1R, Atrial septal defect 5
RS121912675 ACTC1 Health Risk Pathogenic Hypertrophic cardiomyopathy 11, Atrial septal defect 5
RS121912676 ACTC1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Atrial septal defect 5
RS121912677 ACTC1 Health Risk Pathogenic Atrial septal defect 5, Atrial septal defect 5
RS121912678 ACVR1 Health Risk Pathogenic Progressive myositis ossificans, Inborn genetic diseases
RS121912679 ACVR1 Health Risk Pathogenic Progressive myositis ossificans, Diffuse midline glioma
RS121912680 ACVR1 Health Risk Pathogenic Progressive myositis ossificans, Progressive myositis ossificans
RS121912681 APRT Health Risk Pathogenic/Likely pathogenic Adenine phosphoribosyltransferase deficiency, See cases
RS121912682 AMPD1 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS121912683 SLC25A4 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
RS121912685 AFP Health Risk Pathogenic Alpha-fetoprotein deficiency, Alpha-fetoprotein deficiency
RS121912691 SLC3A1 Health Risk Pathogenic/Likely pathogenic Cystinuria, See cases
RS121912693 SLC3A1 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS121912694 SLC3A1 Health Risk Pathogenic Cystinuria, Cystinuria
RS121912698 ACY1 Health Risk Conflicting classifications of pathogenicity Aminoacylase 1 deficiency, Inborn genetic diseases
RS121912699 ACY1 Health Risk Conflicting classifications of pathogenicity Aminoacylase 1 deficiency, Inborn genetic diseases
RS121912700 ACY1 Health Risk Pathogenic Aminoacylase 1 deficiency, Aminoacylase 1 deficiency
RS121912702 AGT Health Risk Pathogenic Renal tubular dysgenesis, Renal tubular dysgenesis
RS121912704 ACE Health Risk Likely pathogenic Renal tubular dysgenesis, Microvascular complications of diabetes
RS121912705 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS121912706 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 4, Death in infancy
RS121912707 ALDH7A1 Health Risk Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy, Seizure
RS121912708 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Seizure
RS121912709 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS121912710 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS121912711 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS121912712 SERPINA1 Health Risk Conflicting classifications of pathogenicity PI CHRISTCHURCH, Alpha-1-antitrypsin deficiency
RS121912713 SERPINA1 Health Risk Pathogenic Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation, Alpha-1-antitrypsin deficiency
RS121912714 SERPINA1 Health Risk Pathogenic; other PI NULL(CARDIFF), PI P(DUARTE)
RS121912715 IFNGR1 Health Risk Pathogenic Immunodeficiency 27A, Immunodeficiency 27A
RS121912716 APOA1 Health Risk Pathogenic APOLIPOPROTEIN A-I (MARBURG), APOLIPOPROTEIN A-I (MARBURG)
RS121912718 APOA1 Health Risk Pathogenic Hypoalphalipoproteinemia, primary
RS121912720 APOA1 Health Risk Pathogenic APOLIPOPROTEIN A-I (MUNSTER3C), APOLIPOPROTEIN A-I (MUNSTER3C)
RS121912723 APOA1 Health Risk Pathogenic Hypoalphalipoproteinemia, primary
RS121912724 APOA1 Health Risk Pathogenic Familial amyloid polyneuropathy, Iowa type
RS121912725 APOA1 Health Risk Pathogenic Hypoalphalipoproteinemia, primary
RS121912726 APOA1 Health Risk Pathogenic Familial amyloid polyneuropathy, Iowa type
RS121912727 APOA1 Health Risk Pathogenic Hypoalphalipoproteinemia, primary
RS121912728 APOA1 Health Risk Pathogenic —
RS121912729 APOA1 Health Risk Pathogenic Familial amyloid polyneuropathy, Iowa type
RS121912730 APOA1 Health Risk Pathogenic Familial amyloid polyneuropathy, Iowa type
RS121912731 ATP2A2 Health Risk Pathogenic Keratosis follicularis, Keratosis follicularis
RS121912732 ATP2A2 Health Risk Pathogenic/Likely pathogenic Darier disease, acral hemorrhagic type
RS121912733 ATP2A2 Health Risk Pathogenic Darier disease, acral hemorrhagic type
RS121912734 ATP2A2 Health Risk Pathogenic Keratosis follicularis, Keratosis follicularis
RS121912735 ATP2A2 Health Risk Pathogenic Darier disease, segmental
RS121912736 ATP2A2 Health Risk Pathogenic Darier disease, segmental
RS121912737 ATP2A2 Health Risk Pathogenic Acrokeratosis verruciformis of Hopf, Acrokeratosis verruciformis of Hopf
RS121912738 ATP2A2 Health Risk Pathogenic Keratosis follicularis, Keratosis follicularis
RS121912739 NPR2 Health Risk Pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS121912741 SLC4A1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 4, Hereditary spherocytosis type 4
RS121912742 SLC4A1 Health Risk Pathogenic Hereditary spherocytosis type 4, Hereditary spherocytosis type 4
RS121912744 SLC4A1 Health Risk Pathogenic Autosomal dominant distal renal tubular acidosis, Distal renal tubular acidosis
RS121912745 SLC4A1 Health Risk Likely pathogenic Autosomal dominant distal renal tubular acidosis, 11 conditions
RS121912746 SLC4A1 Health Risk Pathogenic Autosomal dominant distal renal tubular acidosis, Autosomal dominant distal renal tubular acidosis
RS121912748 SLC4A1 Health Risk Pathogenic/Likely pathogenic Renal tubular acidosis, distal
RS121912749 SLC4A1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 4, Autosomal dominant distal renal tubular acidosis
RS121912750 SLC4A1 Health Risk Likely pathogenic Hereditary spherocytosis type 4, Hereditary spherocytosis type 4
RS121912751 SLC4A1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant distal renal tubular acidosis, Renal tubular acidosis
RS121912752 SLC4A1 Health Risk Pathogenic Renal tubular acidosis, distal
RS121912753 SLC4A1 Health Risk Pathogenic Renal tubular acidosis, distal
RS121912754 SLC4A1 Health Risk Pathogenic Renal tubular acidosis, distal
RS121912755 SLC4A1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 4, 11 conditions
RS121912757 SLC4A1 Health Risk Conflicting classifications of pathogenicity SWANN BLOOD GROUP ANTIGEN, Autosomal dominant distal renal tubular acidosis
RS121912759 SLC4A1 Health Risk Conflicting classifications of pathogenicity Acanthocytosis due to band 3 HT, Acanthocytosis
RS121912767 BMP4 Health Risk Conflicting classifications of pathogenicity Orofacial cleft 11, Microphthalmia with brain and digit anomalies
RS121912769 COL17A1 Health Risk Pathogenic Junctional epidermolysis bullosa, Epidermolysis bullosa
RS121912770 COL17A1 Health Risk Pathogenic Epidermolysis bullosa, junctional 4
RS121912771 COL17A1 Health Risk Pathogenic/Likely pathogenic Epithelial recurrent erosion dystrophy, Epidermolysis bullosa
RS121912772 COL17A1 Health Risk Pathogenic Epidermolysis bullosa, junctional 4
RS121912773 COL17A1 Health Risk Pathogenic Epidermolysis bullosa, junctional 4
« Prev 1 ... 266 267 268 269 270 271 272 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →