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
RS745369888 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS745370910 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS745371873 USH2A Health Risk Pathogenic —
RS745371874 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS745371972 PRG4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS745372938 TRIP11 Health Risk Likely pathogenic Achondrogenesis, type IA
RS745373565 DLX3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745374335 DSCAM Health Risk Conflicting classifications of pathogenicity DSCAM-related disorder, Autism
RS745374448 F7 Health Risk Pathogenic F7-related disorder, Congenital factor VII deficiency
RS745374795 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS745375312 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS745375504 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CHD8-related disorder
RS745376275 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS745376502 COL4A2 Health Risk Likely pathogenic —
RS745377913 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS745378093 ECEL1 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS745378130 TBX5 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Cardiovascular phenotype
RS745378351 SLC26A5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 61, SLC26A5-related disorder
RS745378416 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS745379131 RAI1 Health Risk Conflicting classifications of pathogenicity Smith-Magenis syndrome, RAI1-related disorder
RS745380273 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745380962 DNMT3A Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS745381057 FLNB Health Risk Likely pathogenic —
RS745381842 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS745381915 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745382051 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS745382488 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B
RS745382616 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Heimler syndrome 2
RS745382789 CABP4 Health Risk Pathogenic Cone-rod synaptic disorder, congenital nonprogressive
RS745383145 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, NTHL1-related disorder
RS745383210 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS745385484 PNKP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS745385503 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS745385522 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
RS745386414 SLC17A5 Health Risk Pathogenic Salla disease, Salla disease
RS745386663 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS745389962 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS745391227 GRN Health Risk Conflicting classifications of pathogenicity GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS745391240 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS745391514 SEPTIN9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745392080 HOXB13 Health Risk Conflicting classifications of pathogenicity Prostate cancer, hereditary
RS745392382 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases
RS745392621 CRLF1 Health Risk Likely pathogenic Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1
RS745394044 HACE1 Health Risk Conflicting classifications of pathogenicity —
RS745394212 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS745394467 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia
RS745394881 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS745395767 GPSM2 Health Risk Conflicting classifications of pathogenicity Chudley-McCullough syndrome, Chudley-McCullough syndrome
RS745396297 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS745396398 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS745396554 SON Health Risk Conflicting classifications of pathogenicity —
RS745399096 OTOF Health Risk Conflicting classifications of pathogenicity —
RS745399748 NDUFA2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS745399967 COL13A1 Health Risk Likely pathogenic —
RS745401772 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS745403938 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS745404241 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia type I, Citrullinemia
RS745404679 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS745404712 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS745404766 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS745406929 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745407557 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS745407845 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS745408471 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS745408649 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS745409162 RTN2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS745409628 PLOD1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS745410848 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS745411817 CTNNA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS745413532 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS745413543 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Joubert syndrome 7, Meckel-Gruber syndrome
RS745413738 PCNT Health Risk Pathogenic —
RS745413783 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
RS745413794 CYP4V2 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS745414155 MYCN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MYCN-related disorder
RS745414252 ABCD4 Health Risk Likely pathogenic Cobalamin C disease, Methylmalonic acidemia with homocystinuria
RS745414764 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS745414854 TSC2 Health Risk Pathogenic —
RS745417882 NEXMIF Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability, Cantagrel type
RS745418167 SPAG1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 28, Primary ciliary dyskinesia
RS745418679 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS745418947 POLR3A Health Risk Pathogenic/Likely pathogenic Leukodystrophy, hypomyelinating
RS745418960 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS745420110 NEB Health Risk Pathogenic —
RS745420974 SZT2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 18
RS745421590 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, FANCM-related disorder
RS745422316 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS745422404 TTR Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Carpal tunnel syndrome 1
RS745422941 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS745424307 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS745425169 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS745425759 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1
RS745426479 ALG6 Health Risk Pathogenic/Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS745427463 PRPH2 Health Risk Likely pathogenic —
RS745427593 TJP2 Health Risk Conflicting classifications of pathogenicity —
RS745427943 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS745428229 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Retinitis pigmentosa 3
RS745429365 DDX3X Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745432268 DHTKD1 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS745432667 MPI Health Risk Pathogenic/Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
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