SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1131691715 EHMT1 Health Risk Pathogenic —
RS1131691716 LINS1 Health Risk Pathogenic —
RS1131691718 HCFC1 Health Risk Likely pathogenic —
RS1131691721 PUF60 Health Risk Pathogenic —
RS1131691724 FREM1 Health Risk Pathogenic —
RS1131691727 SHANK3 Health Risk Pathogenic —
RS1131691728 ACTA1 Health Risk Pathogenic —
RS1131691730 FBN1 Health Risk Pathogenic —
RS1131691731 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1131691732 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS1131691733 CHD7 Health Risk Pathogenic —
RS1131691734 KCNQ2 Health Risk Pathogenic —
RS1131691735 TCF4 Health Risk Pathogenic/Likely pathogenic Pitt-Hopkins syndrome, Inborn genetic diseases
RS1131691736 CTNNB1 Health Risk Pathogenic —
RS1131691737 TBC1D24 Health Risk Pathogenic —
RS1131691738 COL4A3 Health Risk Pathogenic/Likely pathogenic Alport syndrome, Autosomal dominant Alport syndrome
RS1131691740 RARB Health Risk Pathogenic —
RS1131691741 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS1131691742 STXBP1 Health Risk Likely pathogenic —
RS1131691743 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Inborn genetic diseases
RS1131691744 TGFB2 Health Risk Likely pathogenic —
RS1131691752 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS1131691753 COL17A1 Health Risk Pathogenic —
RS1131691754 NSD1 Health Risk Pathogenic Inborn genetic diseases, Sotos syndrome
RS1131691755 SMAD2 Health Risk Pathogenic —
RS1131691756 ZEB2 Health Risk Pathogenic —
RS1131691757 HYCC1 Health Risk Likely pathogenic Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract
RS1131691758 PTCH1 Health Risk Pathogenic —
RS1131691759 ACO2 Health Risk Pathogenic —
RS1131691760 DNMT3A Health Risk Likely pathogenic —
RS1131691761 AR Health Risk Pathogenic —
RS1131691762 KCNE1 Health Risk Pathogenic Long QT syndrome, Cardiovascular phenotype
RS1131691763 ITGB2 Health Risk Pathogenic/Likely pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS1131691764 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS1131691766 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1131691767 CNTNAP1 Health Risk Pathogenic —
RS1131691768 KMT2D Health Risk Pathogenic —
RS1131691769 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS1131691770 ADNP Health Risk Pathogenic —
RS1131691771 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1131691772 FBN1 Health Risk Likely pathogenic —
RS1131691773 SCN1A Health Risk Likely pathogenic Early-infantile DEE, SCN1A-related disorder
RS1131691774 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1131691775 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Migraine
RS1131691776 SCN9A Health Risk Likely pathogenic Paroxysmal extreme pain disorder, Paroxysmal extreme pain disorder
RS1131691777 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1131691778 WFS1 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 6, Autosomal dominant nonsyndromic hearing loss 6
RS1131691782 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1131691783 ERCC8 Health Risk Pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS1131691787 NEB Health Risk Likely pathogenic —
RS1131691789 LAMA1 Health Risk Pathogenic —
RS1131691791 AGPAT2 Health Risk Pathogenic/Likely pathogenic Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1
RS1131691792 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Inborn genetic diseases
RS1131691793 SCN1A Health Risk Pathogenic —
RS1131691794 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1131691795 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1131691799 KMT2A Health Risk Pathogenic Inborn genetic diseases, Wiedemann-Steiner syndrome
RS1131691801 UBE3A Health Risk Pathogenic —
RS1131691803 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1131691804 FBN1 Health Risk Pathogenic/Likely pathogenic Metaphyseal chondrodysplasia, Relative macrocephaly
RS1131691805 FBN1 Health Risk Likely pathogenic —
RS1131691806 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1131691807 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS1131691808 ACADVL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Very long chain acyl-CoA dehydrogenase deficiency
RS1131691809 ARSL Health Risk Pathogenic —
RS1131691810 SPTA1 Health Risk Likely pathogenic —
RS1131691811 TTN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1131691812 PHEX Health Risk Pathogenic —
RS1131691813 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS1131691815 SPINK5 Health Risk Pathogenic —
RS1131691816 SHANK3 Health Risk Pathogenic —
RS1131691817 RAI1 Health Risk Pathogenic —
RS1131691818 MED13L Health Risk Likely pathogenic MED13L-related disorder, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS1131691820 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1131691822 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, COL2A1-related disorder
RS1131691823 CPAP Health Risk Pathogenic Seckel syndrome 4, Seckel syndrome 4
RS1131691826 NR2F1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1131691828 CYBB Health Risk Pathogenic Chronic granulomatous disease, Granulomatous disease
RS1131691830 SCN8A Health Risk Pathogenic/Likely pathogenic Seizures, benign familial infantile
RS1131691831 PTEN Health Risk Pathogenic/Likely pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1131691832 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS1131691833 MYO7A Health Risk Likely pathogenic —
RS1131691834 COL4A1 Health Risk Pathogenic —
RS1131691835 COMP Health Risk Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS1131691836 CYBB Health Risk Likely pathogenic —
RS1131691837 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1131691838 SPAST Health Risk Likely pathogenic —
RS1131691839 MYH6 Health Risk Likely pathogenic MYH6-related disorder, MYH6-related disorder
RS1131691841 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Thyroid cancer
RS1131691842 SBDS Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS1131691844 NF1 Health Risk Likely pathogenic —
RS1131691845 CHAMP1 Health Risk Pathogenic —
RS1131691852 MPZ Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, type I
RS1131691853 HERC1 Health Risk Likely pathogenic —
RS1131691861 RET Health Risk Likely pathogenic —
RS1131691862 LZTR1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1131691863 ANOS1 Health Risk Pathogenic —
RS1131691864 ATP6V1B2 Health Risk Likely pathogenic —
RS1131691865 ABCC6 Health Risk Likely pathogenic Arterial calcification, generalized
RS1131691866 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
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