SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS886042402 COL6A3 Health Risk Pathogenic —
RS886042405 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS886042409 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS886042410 TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, TRIM32-related disorder
RS886042414 TTN Health Risk Likely pathogenic —
RS886042415 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS886042417 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS886042418 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS886042421 SYNE1 Health Risk Pathogenic SYNE1-related disorder, Autosomal recessive ataxia
RS886042428 ROR2 Health Risk Pathogenic —
RS886042430 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS886042437 DMD Health Risk Pathogenic —
RS886042439 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS886042440 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
RS886042441 TTN Health Risk Likely pathogenic —
RS886042442 ANO5 Health Risk Pathogenic —
RS886042445 CRPPA Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS886042447 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS886042449 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886042452 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS886042457 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Amyotrophic lateral sclerosis
RS886042458 SHH Health Risk Pathogenic/Likely pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS886042459 POMT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS886042462 GDF5 Health Risk Pathogenic/Likely pathogenic Type A2 brachydactyly, Type A2 brachydactyly
RS886042463 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS886042465 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS886042467 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Joubert syndrome
RS886042468 NSD1 Health Risk Conflicting classifications of pathogenicity NSD1-related disorder, NSD1-related disorder
RS886042469 ST3GAL3 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS886042473 COL1A1 Health Risk Pathogenic —
RS886042477 PLG Health Risk Pathogenic —
RS886042478 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS886042481 SYN1 Health Risk Pathogenic —
RS886042484 EXT1 Health Risk Conflicting classifications of pathogenicity Multiple congenital exostosis, Multiple congenital exostosis
RS886042490 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS886042495 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886042499 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886042502 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886042503 SGCB Health Risk Pathogenic/Likely pathogenic Qualitative or quantitative defects of beta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS886042504 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS886042506 FKRP Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy
RS886042507 TRPS1 Health Risk Pathogenic —
RS886042511 TTN Health Risk Conflicting classifications of pathogenicity —
RS886042513 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS886042517 NPHS1 Health Risk Pathogenic —
RS886042519 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS886042525 FOXE3 Health Risk Conflicting classifications of pathogenicity Congenital primary aphakia, Anterior segment dysgenesis
RS886042527 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS886042528 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, SCN1A-related disorder
RS886042532 ASXL1 Health Risk Conflicting classifications of pathogenicity Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS886042533 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS886042535 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886042539 TTN Health Risk Conflicting classifications of pathogenicity —
RS886042540 SGCG Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS886042541 COL6A2 Health Risk Likely pathogenic —
RS886042543 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886042546 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS886042553 COL10A1 Health Risk Conflicting classifications of pathogenicity —
RS886042554 CRPPA Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS886042556 ANO5 Health Risk Likely pathogenic —
RS886042557 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS886042562 ABCB4 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 3, Inborn genetic diseases
RS886042568 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS886042572 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS886042573 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS886042578 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy
RS886042581 DYSF Health Risk Pathogenic —
RS886042584 DYSF Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS886042588 CAPN3 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy, limb-girdle
RS886042590 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS886042600 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS886042602 COL1A1 Health Risk Pathogenic —
RS886042603 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS886042604 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Abnormality of the musculature
RS886042605 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS886042609 COL1A1 Health Risk Pathogenic —
RS886042610 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 2
RS886042612 COL2A1 Health Risk Pathogenic —
RS886042613 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS886042614 EYS Health Risk Pathogenic/Likely pathogenic —
RS886042616 DMD Health Risk Pathogenic —
RS886042617 DYSF Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS886042618 DMD Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dystrophin, Duchenne muscular dystrophy
RS886042619 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS886042621 CCDC40 Health Risk Pathogenic —
RS886042622 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS886042623 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS886042624 ANO5 Health Risk Conflicting classifications of pathogenicity ANO5-Related Muscle Diseases, Gnathodiaphyseal dysplasia
RS886042626 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS886042632 DYSF Health Risk Pathogenic —
RS886042633 DYSF Health Risk Pathogenic/Likely pathogenic Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1
RS886042635 DYSF Health Risk Pathogenic Miyoshi muscular dystrophy 1, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS886042636 DYSF Health Risk Pathogenic/Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS886042637 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS886042641 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS886042643 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886042645 GALC Health Risk Likely pathogenic —
RS886042646 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS886042647 ANO5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS886042651 COL2A1 Health Risk Pathogenic Spondyloepiphyseal dysplasia congenita, COL2A1-related disorder
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