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
RS41280892 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS41281120 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS41281200 FANCC Health Risk Conflicting classifications of pathogenicity FANCC-related disorder, FANCC-related disorder
RS41281202 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group C
RS41281318 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS41281336 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Pituitary adenoma 5
RS41281338 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS41281459 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ABCG8-related disorder
RS41281487 ITSN2 Health Risk Conflicting classifications of pathogenicity ITSN2-related disorder, ITSN2-related disorder
RS41281550 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS41282026 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS41282065 NHERF1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic nephrolithiasis/osteoporosis 2, Chronic kidney disease
RS41282224 MASTL Health Risk Conflicting classifications of pathogenicity Thrombocytopenia, MASTL-related disorder
RS41282930 KCNJ11 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus, Diabetes mellitus
RS41282932 USH1C Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
RS41282942 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, Usher syndrome type 1C
RS41283530 ANK3 Health Risk Conflicting classifications of pathogenicity Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Familial cancer of breast
RS41283630 ANKS6 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Nephronophthisis 16
RS41283958 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS41284305 SELENON Health Risk Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy, SEPN1-related disorder
RS41284307 SELENON Health Risk Conflicting classifications of pathogenicity SEPN1-related disorder, Eichsfeld type congenital muscular dystrophy
RS41284962 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 66, Retinitis pigmentosa
RS41285015 PEX3 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 10A (Zellweger), Peroxisome biogenesis disorder 10A (Zellweger)
RS41285129 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1E
RS41285132 SCN11A Health Risk Conflicting classifications of pathogenicity Familial episodic pain syndrome with predominantly lower limb involvement, Hereditary sensory and autonomic neuropathy type 7
RS41285286 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS41285370 FOXD3 Health Risk risk factor Autoimmune disease, susceptibility to
RS41285549 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS41285840 ATAD3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Disorder of development or morphogenesis
RS41286009 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS41286130 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS41286200 EYA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 10, Dilated cardiomyopathy 1J
RS41286294 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS41286296 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS41286298 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS41286476 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS41286480 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS41286610 F10 Health Risk Conflicting classifications of pathogenicity Hereditary factor X deficiency disease, Hereditary factor X deficiency disease
RS41286691 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Disorder of bone
RS41286844 C8B Health Risk Pathogenic Type II complement component 8 deficiency, Complement component 6 deficiency
RS41286920 ANKRD1 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS41287375 TRPM3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS41287453 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS41288021 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS41288783 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS41288965 PEX7 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1
RS41288979 IFNGR1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 27A, Disseminated atypical mycobacterial infection
RS41289299 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS41289612 FYCO1 Health Risk Conflicting classifications of pathogenicity Cataract 18, Inborn genetic diseases
RS41289850 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS41289900 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS41290222 PDE6C Health Risk Conflicting classifications of pathogenicity Achromatopsia, Cone dystrophy 4
RS41290587 SPARC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Osteogenesis imperfecta
RS41291047 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS41291054 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS41291058 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS41291161 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS41291450 PAX2 Health Risk Conflicting classifications of pathogenicity Renal coloboma syndrome, Focal segmental glomerulosclerosis 7
RS41291468 TWNK Health Risk Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
RS41291844 CFAP43 Health Risk Conflicting classifications of pathogenicity CFAP43-related disorder, CFAP43-related disorder
RS41291965 PFKM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type VII
RS41292360 TNNC1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z
RS41292388 ATP2A1 Health Risk Conflicting classifications of pathogenicity Brody myopathy, ATP2A1-related disorder
RS41292592 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiomyopathy
RS41292780 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS41292782 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS41293104 MYLK2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Cardiomyopathy
RS41293445 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS41293451 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS41293455 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS41293457 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS41293459 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS41293461 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS41293463 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS41293465 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS41293475 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS41293477 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS41293479 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS41293481 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS41293485 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS41293487 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS41293489 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS41293493 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS41293497 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS41293499 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS41293501 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS41293503 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS41293505 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS41293507 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS41293509 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS41293511 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS41293513 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS41293517 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS41293744 FGFR2 Health Risk Conflicting classifications of pathogenicity Crouzon syndrome, Isolated Coronal Synostosis
RS41294982 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS41294984 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS41294986 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS41294988 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS41295061 IL2RA Health Risk Conflicting classifications of pathogenicity Type 1 diabetes mellitus 10, IL2RA-related disorder
RS41295182 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
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