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
RS369263247 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS369264209 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS369264588 TCIRG1 Health Risk Likely pathogenic Osteopetrosis, Autosomal recessive osteopetrosis 1
RS369264749 NADSYN1 Health Risk Conflicting classifications of pathogenicity Vertebral, cardiac
RS369264968 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal adenoma
RS369265532 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS369265969 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G
RS369267445 PKDCC Health Risk Likely pathogenic Rhizomelic limb shortening with dysmorphic features, Rhizomelic limb shortening with dysmorphic features
RS369267630 DDR2 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
RS369268267 LAMA5 Health Risk Pathogenic Nephrotic syndrome, IIa 26
RS369268433 DACT1 Health Risk Pathogenic Townes-Brocks syndrome 2, Townes-Brocks syndrome 2
RS369269532 CHRNA4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy
RS369269989 SYNE4 Health Risk Conflicting classifications of pathogenicity —
RS369271997 NBAS Health Risk Conflicting classifications of pathogenicity Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Short stature-optic atrophy-Pelger-Huët anomaly syndrome
RS369273391 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS369273744 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS369274077 MYH6 Health Risk Conflicting classifications of pathogenicity Heart disease, Cardiomyopathy
RS369275207 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS369275615 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy
RS369275802 PIGV Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 1, Inborn genetic diseases
RS369276612 MAST1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369276714 F5 Health Risk Conflicting classifications of pathogenicity Budd-Chiari syndrome, Factor V deficiency
RS369276846 RAG2 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS369277188 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS369277252 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS369277330 WRN Health Risk Likely pathogenic Werner syndrome, Inborn genetic diseases
RS369278165 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS369278337 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS369278427 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS369279135 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS369279743 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS369279892 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS369280031 GLUL Health Risk Conflicting classifications of pathogenicity Congenital brain dysgenesis due to glutamine synthetase deficiency, Congenital brain dysgenesis due to glutamine synthetase deficiency
RS369280729 ABCC6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pseudoxanthoma elasticum
RS369281115 CNGA3 Health Risk Pathogenic/Likely pathogenic —
RS369281291 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, Malignant hyperthermia
RS369281541 TGFB3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome
RS369283493 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS369284316 KDM6A Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 2, Inborn genetic diseases
RS369284507 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS369285281 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369285521 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS369285532 CELSR2 Health Risk Conflicting classifications of pathogenicity CELSR2-related disorder, CELSR2-related disorder
RS369287403 HECW2 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS369288131 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS369289384 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS369289550 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS369291371 EARS2 Health Risk Pathogenic —
RS369291641 ATP8A2 Health Risk Conflicting classifications of pathogenicity ATP8A2-related disorder, ATP8A2-related disorder
RS369291837 TYR Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B
RS369292480 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
RS369292604 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive myogenic arthrogryposis multiplex congenita, Inborn genetic diseases
RS369292828 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS369293480 GALE Health Risk Conflicting classifications of pathogenicity UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS369293880 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS369294255 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS369294289 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS369294392 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS369294972 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, incomplete
RS369295226 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS369296618 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS369297699 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, LOXHD1-related disorder
RS369298689 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS369299704 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS369299712 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS369299948 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS369303619 C7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369304378 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS369305472 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS369305865 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS369306676 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis
RS369310292 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS369310756 WDR45 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS369312119 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS369312501 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, DNAH5-related disorder
RS369312680 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS369313904 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome type 1, Lethal Kniest-like syndrome
RS369314029 SERPINF1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type 6
RS369314182 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS369314296 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS369314956 AFF3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369315253 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, TRPM1-related disorder
RS369315269 RBBP8 Health Risk Conflicting classifications of pathogenicity RBBP8-related disorder, RBBP8-related disorder
RS369316238 ACOX2 Health Risk Conflicting classifications of pathogenicity ACOX2-related disorder, ACOX2-related disorder
RS369316343 BTD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Biotinidase deficiency
RS369316409 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS369316426 FKTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS369318229 ILDR1 Health Risk Conflicting classifications of pathogenicity —
RS369318758 SLC26A2 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IB
RS369319119 BBS7 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS7-related disorder
RS369319123 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, Inborn genetic diseases
RS369321121 MUC5B Health Risk Conflicting classifications of pathogenicity —
RS369323506 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS369324246 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS369324297 LRPPRC Health Risk Pathogenic —
RS369324431 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS369324677 NAA15 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369324783 GPR179 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS369326210 MPI Health Risk Pathogenic/Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS369327186 ASB16 Health Risk Conflicting classifications of pathogenicity —
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