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
RS374336459 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, ABCA4-related disorder
RS374336669 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS374336702 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS3743377 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS374339847 COL4A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374339942 UMPS Health Risk Conflicting classifications of pathogenicity Oroticaciduria, Hereditary orotic aciduria
RS374339990 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS374340059 ATP8B1 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS374340343 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS374340855 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Benign familial hematuria
RS374341202 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS374341207 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS374341474 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Episodic pain syndrome
RS374342179 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS374342418 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Inborn genetic diseases
RS374343385 HPS4 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS374343397 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa
RS374343844 LBR Health Risk Pathogenic Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia
RS374343979 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS374344462 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374344463 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS374344594 PCNT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PCNT-related disorder
RS374344734 TTN Health Risk Conflicting classifications of pathogenicity —
RS374344839 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS374345558 RASGRP2 Health Risk Likely pathogenic Abnormal platelet aggregation, Abnormal platelet aggregation
RS374346190 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS374346618 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS374346637 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS374347076 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS374347679 MMAA Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblA type
RS374348403 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS374348614 ADGRV1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome type 2C
RS374348925 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS374349989 TCTN2 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 8
RS374350236 IFITM5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374350634 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS374350782 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Alagille syndrome due to a JAG1 point mutation
RS374350787 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS374351172 CDK5RAP2 Health Risk Pathogenic Microcephaly 3, primary
RS374351343 RNF216 Health Risk Pathogenic/Likely pathogenic Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome
RS374351807 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS374352480 PLD3 Health Risk Conflicting classifications of pathogenicity —
RS374352922 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS374353016 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS374353973 CHCHD10 Health Risk Conflicting classifications of pathogenicity Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
RS374354239 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Senior-Loken syndrome 4
RS374354363 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS3743544 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS374354698 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 1
RS374354849 ADAMTS9 Health Risk Conflicting classifications of pathogenicity —
RS374355050 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Familial hemiplegic migraine
RS374355537 TRDN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 5
RS374356079 DYNC2LI1 Health Risk Pathogenic Short-rib thoracic dysplasia 15 with polydactyly, Asphyxiating thoracic dystrophy 1
RS374356084 ACAD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374356518 RTTN Health Risk Pathogenic/Likely pathogenic Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS374356596 SLC17A8 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 25, Autosomal dominant nonsyndromic hearing loss 25
RS374357106 RAD51D Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS374359013 ROBO3 Health Risk Conflicting classifications of pathogenicity Gaze palsy, familial horizontal
RS374359812 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS374359855 POLR3B Health Risk Conflicting classifications of pathogenicity Amenorrhea, Amenorrhea
RS374360439 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Isolated cryptophthalmia
RS374362883 CDH23 Health Risk Conflicting classifications of pathogenicity Pituitary adenoma 5, multiple types
RS374363044 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS374364917 TXNRD2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS374365287 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS374366470 COL4A2 Health Risk Pathogenic —
RS374368486 C3 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly
RS374369407 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 10, Primary ciliary dyskinesia
RS374370199 KIF4A Health Risk Pathogenic Taurodontism, microdontia
RS374370209 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS374370511 RP1L1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374371115 WDFY3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Microcephaly 18
RS374371998 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS374372032 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS374373297 HBB Health Risk Conflicting classifications of pathogenicity —
RS374373659 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 45, Retinitis pigmentosa
RS374374549 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS374377228 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS374377679 MANBA Health Risk Pathogenic/Likely pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS374378695 CHD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374378925 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS374379005 SOS1 Health Risk Conflicting classifications of pathogenicity Fibromatosis, gingival
RS374379051 F5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital factor V deficiency
RS374379164 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS374379771 ENPP1 Health Risk Likely pathogenic —
RS374379931 PAPSS2 Health Risk Pathogenic/Likely pathogenic Brachyolmia, Spondyloepimetaphyseal dysplasia
RS374380039 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS374380173 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS374380262 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS374380529 CYP7B1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS374380640 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS3743808 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS374381444 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS374381770 EXOC6B Health Risk Likely pathogenic —
RS374381852 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS374382703 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS374384263 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS374384310 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS374385011 HPGD Health Risk Conflicting classifications of pathogenicity Isolated congenital digital clubbing, Hypertrophic osteoarthropathy
RS374385878 ASPH Health Risk Likely pathogenic Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome, Thoracic aortic aneurysm or dissection
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