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
RS747618737 LARS2 Health Risk Conflicting classifications of pathogenicity —
RS747619612 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS747619825 ACP5 Health Risk Pathogenic Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS747619979 TRIOBP Health Risk Likely pathogenic —
RS747620444 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS747620551 PIDD1 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 75
RS747621078 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS747621401 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS747621748 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS747622521 FANCF Health Risk Likely pathogenic Fanconi anemia complementation group F, Fanconi anemia
RS747622607 ADGRV1 Health Risk Pathogenic Usher syndrome type 2C, Febrile seizures
RS747623981 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS747624770 ASNS Health Risk Pathogenic/Likely pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS747626591 PHOX2B Health Risk Conflicting classifications of pathogenicity Congenital central hypoventilation, Neuroblastoma
RS747627650 GYG1 Health Risk Pathogenic Polyglucosan body myopathy type 2, Glycogen storage disease XV
RS747627800 ERMARD Health Risk Conflicting classifications of pathogenicity —
RS747628342 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS747630187 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS747632184 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS747632686 TMEM260 Health Risk Pathogenic Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome
RS747632869 POLG Health Risk Likely pathogenic 6 conditions, Progressive sclerosing poliodystrophy
RS747633377 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS747634832 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS747636658 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS747636808 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS747636919 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS747637190 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Inborn genetic diseases
RS747638599 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS747638667 PROM1 Health Risk Conflicting classifications of pathogenicity Retinal macular dystrophy type 2, Retinitis pigmentosa
RS747638822 PEPD Health Risk Pathogenic —
RS747642083 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS747642850 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS747643987 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS747644007 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS747644844 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS747645067 TMC1 Health Risk Pathogenic Delayed speech and language development, Moderate intellectual disability
RS747645756 TMC1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 7, Nonsyndromic genetic hearing loss
RS747645948 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS747646127 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS747646395 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS747646413 GRIA3 Health Risk Conflicting classifications of pathogenicity —
RS747647882 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747647995 GYG1 Health Risk Likely pathogenic Glycogen storage disease XV, Polyglucosan body myopathy type 2
RS747648596 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS747648795 COLQ Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS747649874 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS747651345 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS747651923 ERCC6 Health Risk Pathogenic —
RS747652397 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 39
RS747652653 LRBA Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS747653130 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS747653593 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS747653875 NMNAT1 Health Risk Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS747654057 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS747655835 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS747656257 GAMT Health Risk Likely pathogenic Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome
RS747656448 MYO7A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome
RS747656642 CALR3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 19, Hypertrophic cardiomyopathy 19
RS747656720 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS747656987 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS747657121 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, FBXL4-related disorder
RS747658523 WFS1 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
RS747658761 CWC27 Health Risk Likely pathogenic —
RS747658866 PGAP2 Health Risk Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3
RS747659448 PDGFRB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Infantile myofibromatosis
RS747659617 LRSAM1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS747660501 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS747661700 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS747661902 PIGQ Health Risk Pathogenic Inborn genetic diseases, Epilepsy
RS747662439 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS747662793 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS747665716 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS747667004 ABCA5 Health Risk Likely pathogenic Gingival fibromatosis-hypertrichosis syndrome, Gingival fibromatosis-hypertrichosis syndrome
RS747667789 WDR35 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Short-rib thoracic dysplasia 7 with or without polydactyly
RS747668147 MMP21 Health Risk Pathogenic Heterotaxy, visceral
RS747668376 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS747669327 DGKD Health Risk Conflicting classifications of pathogenicity —
RS747670551 VIPAS39 Health Risk Likely pathogenic Arthrogryposis, renal dysfunction
RS747672157 DDX41 Health Risk Pathogenic/Likely pathogenic DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS747672984 SRD5A2 Health Risk Pathogenic/Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS74767530 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS747675386 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS747675437 USH1C Health Risk Conflicting classifications of pathogenicity —
RS747675518 KAT6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Blepharophimosis - intellectual disability syndrome
RS747675676 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS747676224 KCTD7 Health Risk Likely pathogenic Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS747676277 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS747678376 CREB3L1 Health Risk Pathogenic Osteogenesis imperfecta type 16, Osteogenesis imperfecta type 16
RS747680111 NIN Health Risk Pathogenic Seckel syndrome 7, Seckel syndrome 7
RS747680932 TSHR Health Risk Conflicting classifications of pathogenicity Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations
RS747681588 ADCY10 Health Risk Pathogenic —
RS747681609 MC4R Health Risk Pathogenic/Likely pathogenic Obesity, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
RS747682416 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS747682469 GPR179 Health Risk Pathogenic —
RS747682836 USP26 Health Risk Pathogenic Spermatogenic failure, X-linked
RS747683527 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Mucolipidosis type IV
RS747683665 POLR3A Health Risk Pathogenic/Likely pathogenic Leukodystrophy, hypomyelinating
RS747683934 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS747684069 SGCA Health Risk Conflicting classifications of pathogenicity Sarcoglycanopathy, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS747684283 PDE6B Health Risk Likely pathogenic Retinitis pigmentosa 40, Retinal dystrophy
« Prev 1 ... 3157 3158 3159 3160 3161 3162 3163 ... 4509 Next »

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

Get Started Free →