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
RS570423677 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS570437641 PCLO Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 3, Inborn genetic diseases
RS570438867 TYMP Health Risk Conflicting classifications of pathogenicity Mitochondrial neurogastrointestinal encephalomyopathy, Mitochondrial neurogastrointestinal encephalomyopathy
RS570440845 CCDC40 Health Risk Conflicting classifications of pathogenicity —
RS570443161 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS570455216 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS57045855 LMNA Health Risk Likely pathogenic Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A
RS570461545 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS570463028 SLC34A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS57046460 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Inborn genetic diseases
RS570464905 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS570469685 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS570470967 TBXAS1 Health Risk Pathogenic —
RS570472326 COL4A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Brain small vessel disease 1 with or without ocular anomalies
RS570475423 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS570476408 FREM2 Health Risk Conflicting classifications of pathogenicity FREM2-related disorder, Fraser syndrome 1
RS570476633 SLC16A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS570483616 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS570485374 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Majeed syndrome
RS570498790 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS570502111 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS570502199 FAT4 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS570510177 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS570510297 MYO16 Health Risk Conflicting classifications of pathogenicity —
RS570511925 CD2AP Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 3, susceptibility to
RS570514864 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Colon adenocarcinoma
RS57052654 KRT6A Health Risk Pathogenic Pachyonychia congenita 3, Pachyonychia congenita 3
RS570526849 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS570527044 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram syndrome 1, Wolfram syndrome 1
RS570531959 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS570548703 TYRP1 Health Risk Conflicting classifications of pathogenicity —
RS570552952 GJB2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A
RS570553679 HR Health Risk Conflicting classifications of pathogenicity Alopecia universalis congenita, Atrichia with papular lesions
RS570568500 CARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27, Inborn genetic diseases
RS570574111 TYMP Health Risk Conflicting classifications of pathogenicity Mitochondrial neurogastrointestinal encephalomyopathy, Mitochondrial neurogastrointestinal encephalomyopathy
RS570577392 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS570580540 EXT2 Health Risk Likely pathogenic Inborn genetic diseases, Exostoses
RS570583897 FAT1 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS570587230 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS570588843 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
RS570594838 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS570599267 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Charcot-Marie-Tooth disease axonal type 2X
RS570600190 TMEM237 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 14, Joubert syndrome 14
RS570608843 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS570615498 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS570620177 PET100 Health Risk Conflicting classifications of pathogenicity —
RS570621429 GRK1 Health Risk Pathogenic/Likely pathogenic Oguchi disease-2, Oguchi disease-2
RS570625067 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS570628442 CDH3 Health Risk Conflicting classifications of pathogenicity EEM syndrome, Gastric cancer
RS570637550 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS570638507 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS570644860 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS570645140 CSF1R Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS570647049 ADAR Health Risk Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS570654786 MED17 Health Risk Conflicting classifications of pathogenicity Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, MED17-related disorder
RS570658290 FOXC1 Health Risk Conflicting classifications of pathogenicity Axenfeld-Rieger syndrome type 3, Inborn genetic diseases
RS570667892 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS570669186 PJVK Health Risk Pathogenic/Likely pathogenic PJVK-related disorder, PJVK-related disorder
RS570679271 TTC21B Health Risk Conflicting classifications of pathogenicity Nephronophthisis 12, Asphyxiating thoracic dystrophy 4
RS570682108 SLC26A2 Health Risk Conflicting classifications of pathogenicity Diastrophic dysplasia, Atelosteogenesis type II
RS570682390 MYPN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1KK
RS570685843 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS570688674 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS570691491 COL5A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS570696606 COG2 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation, type IIq
RS570707807 COL7A1 Health Risk Conflicting classifications of pathogenicity 7 conditions, Inborn genetic diseases
RS570708095 COL11A2 Health Risk Conflicting classifications of pathogenicity COL11A2-related disorder, COL11A2-related disorder
RS570708925 PGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 42
RS570720353 SC5D Health Risk Conflicting classifications of pathogenicity Lathosterolosis, Cervical cancer
RS570730665 ALDH18A1 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal dominant 3
RS570732725 FERMT1 Health Risk Conflicting classifications of pathogenicity Kindler syndrome, FERMT1-related disorder
RS570744198 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS570745701 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, ABCA4-related disorder
RS570748767 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS570768038 CSTB Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Unverricht-Lundborg syndrome
RS570768621 CD3G Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency due to CD3gamma deficiency, Severe combined immunodeficiency disease
RS570770124 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS570773279 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS57077886 LMNA Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1A, Familial partial lipodystrophy
RS57078153 TBX3 Health Risk Conflicting classifications of pathogenicity —
RS570782024 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS570794624 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS570809282 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis syndrome
RS570815282 ADGRG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS570820786 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS570828500 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS570832252 AMPD1 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, AMPD1-related disorder
RS570834330 GSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS570835896 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS570836197 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS570837555 FGD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS570847832 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS570850437 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome type 1, Schwartz-Jampel syndrome type 1
RS570853437 KRT10 Health Risk Conflicting classifications of pathogenicity KRT10-related disorder, KRT10-related disorder
RS570856269 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS570860273 DYSF Health Risk Conflicting classifications of pathogenicity Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS570862962 SCN1A Health Risk Conflicting classifications of pathogenicity SCN1A-related disorder, Early-infantile DEE
RS570878629 JUP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Naxos disease
RS570884031 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
RS570886685 GLRB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hyperekplexia 2
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