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
RS749520121 LDB3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 4
RS749520412 KBTBD13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nemaline myopathy 6
RS749520560 GUSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS749522324 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS749522534 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS749522728 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS749523755 CPLANE1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 17, Jaundice
RS749523973 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, Inborn genetic diseases
RS749526038 LPIN2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Majeed syndrome
RS749526415 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS749526785 ABCA4 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 3, Retinitis pigmentosa
RS749527439 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749527800 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS749527870 SDHAF2 Health Risk Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS749528768 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS749529161 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS749529577 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS749529856 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS749530596 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS749532705 HSD17B4 Health Risk Pathogenic/Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS74953290 APC Health Risk Pathogenic/Likely pathogenic Familial colorectal cancer, Familial adenomatous polyposis 1
RS749533073 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS749533743 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS749534144 FBXO7 Health Risk Pathogenic/Likely pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS749536123 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS749536178 RORB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749537392 ATF6 Health Risk Likely pathogenic Macular dystrophy, Macular dystrophy
RS749537609 CYP27B1 Health Risk Pathogenic/Likely pathogenic Vitamin D-dependent rickets, type 1A
RS749538361 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS749539343 RRAS Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS749539763 CACNA2D2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS749541171 COL18A1 Health Risk Pathogenic COL18A1-related disorder, COL18A1-related disorder
RS749541256 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS749541995 SLC16A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS749542089 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS749542623 GLDC Health Risk Pathogenic —
RS749542896 LARS1 Health Risk Likely pathogenic —
RS749543152 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS749543313 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS749543411 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS749543418 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS749544042 ALPL Health Risk Pathogenic Perinatal lethal hypophosphatasia, Infantile hypophosphatasia
RS749544685 SLC45A2 Health Risk Conflicting classifications of pathogenicity SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
RS749545274 ADAMTSL4 Health Risk Pathogenic —
RS749545338 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS749545528 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS749547712 CASQ2 Health Risk Pathogenic/Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 2
RS749548033 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS749548287 ELP1 Health Risk Likely pathogenic —
RS749548928 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS74954894 SCN5A Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1E, Ventricular fibrillation
RS749548974 ITGB4 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa, junctional 5A
RS749549494 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS749549682 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS749549856 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS749550071 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS749550737 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS749551110 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS749551841 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Lowe syndrome
RS749552053 UGT1A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749552056 CLCN1 Health Risk Conflicting classifications of pathogenicity Abnormality of the musculature, Congenital myotonia
RS749552242 DUOX2 Health Risk Pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS749552415 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS749553271 HFE Health Risk Pathogenic/Likely pathogenic Hereditary hemochromatosis, Hemochromatosis type 1
RS749554385 KCNQ2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, Inborn genetic diseases
RS749554659 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS749555560 BLOC1S6 Health Risk Pathogenic Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9
RS749556191 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS749556197 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS749556778 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS749557617 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, FKTN-related disorder
RS749558026 EGR2 Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS749559501 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS749560316 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS749561286 NOTCH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NOTCH3-related disorder
RS749561945 RAI1 Health Risk Conflicting classifications of pathogenicity —
RS749562548 PLCZ1 Health Risk Pathogenic Spermatogenic failure 17, Spermatogenic failure 17
RS749563050 IFT140 Health Risk Likely pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS749563094 TJP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749563704 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary dilated cardiomyopathy
RS749563734 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS749565002 TCAP Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25
RS749565347 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS749565877 KCNQ4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749566145 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS749566947 SDHA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Mitochondrial complex II deficiency
RS749567006 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS749567608 FMN2 Health Risk Conflicting classifications of pathogenicity —
RS749567617 COL1A2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Osteogenesis imperfecta type I
RS749568919 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS749570458 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS749571160 KMT2C Health Risk Pathogenic/Likely pathogenic Kleefstra syndrome 2, KMT2C-related disorder
RS749571434 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS749571474 DPYD Health Risk Pathogenic/Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS749573024 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS749574677 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS749575443 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Acute myeloid leukemia
RS749575477 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS749575769 SOX9 Health Risk Conflicting classifications of pathogenicity Camptomelic dysplasia, Camptomelic dysplasia
RS749575902 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
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