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
RS199919912 AARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 8, AARS2-related disorder
RS199920123 GBA2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, GBA2-related disorder
RS199920193 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS199920305 ANKRD26 Health Risk Conflicting classifications of pathogenicity —
RS199920384 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS199920612 MFSD2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199920661 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS199920965 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS199921065 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS199921196 KCTD17 Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 26, Inborn genetic diseases
RS199921330 MYH14 Health Risk Conflicting classifications of pathogenicity —
RS199921511 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS199921604 SLC19A2 Health Risk Pathogenic/Likely pathogenic Megaloblastic anemia, thiamine-responsive
RS199922090 DOCK6 Health Risk Conflicting classifications of pathogenicity DOCK6-related disorder, DOCK6-related disorder
RS199922480 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199922550 GMPPB Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2T, Muscular dystrophy-dystroglycanopathy
RS199922877 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS199922945 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IIIa, Glycogen storage disease type III
RS199923241 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Inborn genetic diseases
RS199923708 FYB1 Health Risk Conflicting classifications of pathogenicity —
RS199923805 CNP Health Risk Pathogenic Myopia 2, autosomal dominant
RS199924281 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS199924410 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 43
RS199924613 CEACAM16 Health Risk Conflicting classifications of pathogenicity —
RS199924625 SLC24A5 Health Risk Conflicting classifications of pathogenicity —
RS199924788 FYB1 Health Risk Conflicting classifications of pathogenicity FYB1-related disorder, FYB1-related disorder
RS199925058 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS199925463 RAD51 Health Risk Pathogenic Mirror movements 2, Familial cancer of breast
RS199925705 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2P
RS199925943 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Senior-Loken syndrome 4
RS199926163 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Familial infantile myasthenia
RS199926195 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS199926239 DBH Health Risk Conflicting classifications of pathogenicity Orthostatic hypotension 1, Orthostatic hypotension 1
RS199926617 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS199926911 PDE6C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199927127 GLB1 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-B
RS199927284 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS199927544 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS199927590 DNM2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS199927640 NFU1 Health Risk Conflicting classifications of pathogenicity Multiple mitochondrial dysfunctions syndrome 1, Multiple mitochondrial dysfunctions syndrome 1
RS199927735 POMT1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy
RS199927859 EDNRB Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome, Waardenburg syndrome type 4A
RS199928197 NDRG1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4D
RS199928507 GBA1 Health Risk Conflicting classifications of pathogenicity Gaucher disease type II, Gaucher disease type I
RS199928581 PCDH12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Diencephalic-mesencephalic junction dysplasia syndrome 1
RS199928622 CHRNB2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS199929033 VDR Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS199929362 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G
RS199929590 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS199929757 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS199930162 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS199930373 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Inborn genetic diseases
RS199930484 GOSR2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Inborn genetic diseases
RS199930517 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS199930769 C6 Health Risk Likely pathogenic Complement component 6 deficiency, Complement component 6 deficiency
RS199931075 DLL4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199931312 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS199931318 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS199931327 SQSTM1 Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS199931560 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS199931688 ADCY10 Health Risk Conflicting classifications of pathogenicity —
RS199931771 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS199931785 TRNT1 Health Risk Pathogenic/Likely pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Retinitis pigmentosa and erythrocytic microcytosis
RS199931920 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS199931972 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS199932050 NPHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199932603 CACNA1F Health Risk Conflicting classifications of pathogenicity Macular dystrophy, Retinal dystrophy
RS199932621 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS199932636 ELANE Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital
RS199932910 SPARC Health Risk Conflicting classifications of pathogenicity SPARC-related disorder, Ovarian serous cystadenocarcinoma
RS199932922 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Ehlers-Danlos syndrome
RS199932977 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199933004 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS199933047 MCTP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MCTP2-related disorder
RS199933063 TOR1AIP1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
RS199934259 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, NRXN1-related disorder
RS199934497 SCN7A Health Risk Conflicting classifications of pathogenicity —
RS199934542 COQ8B Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 9
RS199934621 PEX10 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder
RS199934793 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS199934904 SLC12A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34
RS199934929 CASP8 Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 2B, Autoimmune lymphoproliferative syndrome type 2B
RS199935023 PLA2G6 Health Risk Pathogenic Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy
RS199935129 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS199935213 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS199935477 ATP2B2 Health Risk Pathogenic —
RS199935488 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS199935667 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 1
RS199935748 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS199936506 MYH6 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1EE
RS199936529 CEP250 Health Risk Conflicting classifications of pathogenicity —
RS199936838 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS199936876 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS199936910 CACNA2D2 Health Risk Conflicting classifications of pathogenicity Cerebellar atrophy with seizures and variable developmental delay, Early-infantile DEE
RS199937047 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS199937209 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Connective tissue disorder
RS199937246 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS199937453 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Inborn genetic diseases
RS199937454 FASN Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS199937544 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
« Prev 1 ... 1403 1404 1405 1406 1407 1408 1409 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →