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
RS1969205933 YIF1B Health Risk Pathogenic Kaya-Barakat-Masson syndrome, Kaya-Barakat-Masson syndrome
RS1969217856 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1969221767 YIF1B Health Risk Pathogenic Kaya-Barakat-Masson syndrome, Inborn genetic diseases
RS1969238474 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1969271215 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1969278145 RYR1 Health Risk Likely pathogenic —
RS1969316263 KMT2B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1969347580 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS1969359289 KMT2B Health Risk Pathogenic Dystonia 28, childhood-onset
RS1969382362 OPA3 Health Risk Pathogenic 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS1969403532 MKS1 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1969405671 MKS1 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1969409341 MKS1 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1969482515 BLOC1S3 Health Risk Pathogenic Hermansky-Pudlak syndrome 8, Hermansky-Pudlak syndrome 8
RS1969484465 KIAA0753 Health Risk Likely pathogenic —
RS1969484928 ODAD3 Health Risk Likely pathogenic Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30
RS1969490927 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1969545531 FENDRR;FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS1969546584 FOXF1 Health Risk Pathogenic —
RS1969548621 FOXF1 Health Risk Likely pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS1969549826 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS1969550135 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS1969550367 FOXF1 Health Risk Likely pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS1969550532 FOXF1 Health Risk Likely pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS1969550671 FOXF1 Health Risk Likely pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS1969551030 FOXF1 Health Risk Conflicting classifications of pathogenicity —
RS1969551435 PHKB Health Risk Likely pathogenic Glycogen phosphorylase kinase deficiency, Glycogen phosphorylase kinase deficiency
RS1969566259 FOXF1 Health Risk Likely pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS1969566429 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS1969578006 PARN Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 6
RS1969582489 KCNN4 Health Risk Pathogenic Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
RS1969588520 KMT2B Health Risk Likely pathogenic —
RS1969592103 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS1969594703 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1969627663 ODAD3 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1969723330 PRKCSH Health Risk Likely pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS1969752491 PRKCSH Health Risk Likely pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS1969817843 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1969830618 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Inborn genetic diseases
RS1969834618 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome
RS1969839736 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C
RS1969852472 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1969856640 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1969858094 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1969880683 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1969907819 OPA3 Health Risk Pathogenic 3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3
RS1969917438 MAST1 Health Risk Pathogenic Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
RS1969955431 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A
RS1969956193 PEPD Health Risk Likely pathogenic —
RS1969966399 MAST1 Health Risk Pathogenic —
RS1969972830 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1969973509 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1969980104 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1969985315 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C
RS1970005446 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C
RS1970017927 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1970018420 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1970021137 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1970024714 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1970029155 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1970033550 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1970039895 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome 4B
RS1970047024 PRKCSH Health Risk Pathogenic —
RS1970064722 RYR1 Health Risk Pathogenic Congenital multicore myopathy with external ophthalmoplegia, Congenital multicore myopathy with external ophthalmoplegia
RS1970129424 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1970132052 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1970195394 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS1970251710 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS1970256904 KIAA0753 Health Risk Pathogenic Short-rib thoracic dysplasia 21 without polydactyly, Short-rib thoracic dysplasia 21 without polydactyly
RS1970284041 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS1970309647 PARN Health Risk Likely pathogenic Familial Interstitial Pneumonia, Pulmonary fibrosis
RS1970341946 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1970347303 DNASE2 Health Risk Pathogenic Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency, Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency
RS1970365829 GP1BA Health Risk Likely pathogenic Abnormal bleeding, Thrombocytopenia
RS1970380121 RYR1 Health Risk Pathogenic Central core myopathy, RYR1-related disorder
RS1970392127 GP1BA Health Risk Likely pathogenic —
RS1970417447 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1970419486 PRKCSH Health Risk Pathogenic Polycystic liver disease 1, Polycystic liver disease 1
RS1970421631 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1970424535 ZSWIM7 Health Risk Pathogenic Ovarian dysgenesis 10, Ovarian dysgenesis 10
RS1970426484 KLF1 Health Risk Conflicting classifications of pathogenicity —
RS1970430433 RPGRIP1L Health Risk Pathogenic Meckel syndrome, type 5
RS1970439370 PRKCSH Health Risk Pathogenic/Likely pathogenic —
RS1970460175 CHD3 Health Risk Likely pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS1970491995 MPO Health Risk Likely pathogenic Myeloperoxidase deficiency, Myeloperoxidase deficiency
RS1970542838 CHD3 Health Risk Likely pathogenic —
RS1970555406 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1970564107 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS1970564149 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1970564827 WDR62 Health Risk Likely pathogenic Microcephaly 2, primary
RS1970568352 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS1970568682 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS1970581444 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS1970602621 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1970604182 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1970608600 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1970671544 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1970675055 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS1970675584 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1970675873 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
« Prev 1 ... 1366 1367 1368 1369 1370 1371 1372 ... 4509 Next »

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

Get Started Free →