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
RS764210489 COL2A1 Health Risk Pathogenic —
RS764210532 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS764210725 NOTCH2 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
RS764211125 P4HA2 Health Risk Pathogenic Myopia 25, autosomal dominant
RS764211494 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, Cataract 41
RS764212214 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS764213364 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS764213589 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS764214258 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS764215221 SUMF1 Health Risk Conflicting classifications of pathogenicity Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS764216969 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS764217666 SLC4A11 Health Risk Pathogenic Corneal dystrophy-perceptive deafness syndrome, Congenital hereditary endothelial dystrophy of cornea
RS764218079 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS764218640 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS764219842 SLC27A4 Health Risk Pathogenic Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome
RS764220175 SLC12A3 Health Risk Likely pathogenic —
RS764220516 PHOX2B Health Risk Conflicting classifications of pathogenicity Haddad syndrome, Haddad syndrome
RS764220674 ABCB11 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, Inborn genetic diseases
RS764220898 SERPINA1 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS764221630 SCN2B Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Atrial fibrillation
RS764222986 IFT122 Health Risk Pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS764224799 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS764225649 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS764225717 TSC2 Health Risk Pathogenic —
RS764225803 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS764226133 MKRN3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764227040 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Zellweger spectrum disorders
RS764229134 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa
RS764231441 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS764231534 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS764231632 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS764231926 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS764232082 PRPF31 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS764232113 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS764232504 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Woolly hair-skin fragility syndrome
RS764232985 GCK Health Risk Likely pathogenic Monogenic diabetes, Maturity-onset diabetes of the young type 2
RS764234046 SPRED1 Health Risk Pathogenic Legius syndrome, Cardiovascular phenotype
RS764234724 KMT2B Health Risk Likely pathogenic —
RS764235096 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS764235653 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS764236220 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS764236480 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS764236940 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS764238274 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764238442 KRT83 Health Risk Conflicting classifications of pathogenicity Monilethrix, Monilethrix
RS764238525 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, See cases
RS764238988 AR Health Risk Conflicting classifications of pathogenicity Androgen resistance syndrome, Male infertility
RS764238999 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS764239040 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764239923 GLDN Health Risk Likely pathogenic Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11
RS764240226 MYO7A Health Risk Pathogenic —
RS764240457 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Nephronophthisis
RS764241362 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS764241934 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS764242694 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS764242699 CD46 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, CD46-related disorder
RS764242924 DTNA Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 1, Left ventricular noncompaction 1
RS764242946 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS764243269 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS764243782 FOXL2 Health Risk Pathogenic Premature ovarian failure 3, Blepharophimosis
RS764244307 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS764244331 NOD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Regional enteritis
RS764244626 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS764244639 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS764244718 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Melanoma-pancreatic cancer syndrome
RS764245090 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS764245230 NEK10 Health Risk Likely pathogenic Ciliary dyskinesia, primary
RS764245266 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS764246302 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS764246939 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS764247288 SLC12A1 Health Risk Pathogenic/Likely pathogenic Bartter disease type 1, Bartter disease type 1
RS764247545 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS764247879 STIM1 Health Risk Conflicting classifications of pathogenicity Myopathy with tubular aggregates, Combined immunodeficiency due to STIM1 deficiency
RS764248656 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS764248881 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764248927 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS764250397 TTN Health Risk Conflicting classifications of pathogenicity —
RS764251007 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS764251434 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS764251922 KCNH2 Health Risk Pathogenic —
RS764251996 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS764252130 PINK1 Health Risk Likely pathogenic Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS764252217 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS764254189 AFG3L2 Health Risk Likely pathogenic Spastic ataxia 5, Spastic ataxia 5
RS764254441 TTN Health Risk Conflicting classifications of pathogenicity —
RS764255899 TPM3 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with fiber type disproportion, Congenital myopathy 4B
RS764255983 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS764256655 CRB1 Health Risk Pathogenic/Likely pathogenic Macular dystrophy, Retinitis pigmentosa 12
RS764256720 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS764256845 TPP1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 2
RS764259203 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS764259746 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS764260054 RAB3GAP1 Health Risk Pathogenic Warburg micro syndrome 1, Warburg micro syndrome 1
RS764260414 AGPAT2 Health Risk Pathogenic Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1
RS764260671 SCN10A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS764261431 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS764262014 EIF2B1 Health Risk Pathogenic —
RS764262032 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS764262245 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS764262446 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, Central core myopathy
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