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
RS2549722965 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS2549723925 ATP6V1A Health Risk Pathogenic Developmental and epileptic encephalopathy 93, Developmental and epileptic encephalopathy 93
RS2549723939 ATP6V1A Health Risk Pathogenic Developmental and epileptic encephalopathy 93, Developmental and epileptic encephalopathy 93
RS2549725080 ATP6V1A Health Risk Pathogenic Developmental and epileptic encephalopathy 93, Developmental and epileptic encephalopathy 93
RS2549782519 GPHN Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2549805387 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS2549928014 TTC19 Health Risk Likely pathogenic Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2
RS2549928140 TTC19 Health Risk Likely pathogenic Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2
RS2549928946 TTC19 Health Risk Likely pathogenic —
RS2549937925 KCNMA1 Health Risk Likely pathogenic KCNMA1-related disorder, KCNMA1-related disorder
RS2549940466 NBEA Health Risk Likely pathogenic Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy
RS2549948325 D2HGDH Health Risk Pathogenic D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS2549951241 TTC19 Health Risk Pathogenic Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2
RS2550006957 NBEA Health Risk Likely pathogenic Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy
RS2550008477 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS2550010488 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS2550073107 RALGAPA1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2550169186 BRCA1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2550196133 RALGAPA1 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency
RS2550221031 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2550229446 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS2550264308 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2550289323 SYNE1 Health Risk Pathogenic —
RS2550305195 USP48 Health Risk Pathogenic Hearing loss, autosomal dominant 85
RS2550338285 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2550356690 MYT1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 39
RS2550356884 MYT1L Health Risk Pathogenic Intellectual disability, autosomal dominant 39
RS2550384637 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2550438194 ZBTB20 Health Risk Pathogenic Primrose syndrome, Primrose syndrome
RS2550438318 ZBTB20 Health Risk Likely pathogenic Primrose syndrome, Primrose syndrome
RS2550438573 ZBTB20 Health Risk Likely pathogenic ZBTB20-related disorder, ZBTB20-related disorder
RS2550438639 ZBTB20 Health Risk Pathogenic —
RS2550438783 ZBTB20 Health Risk Pathogenic —
RS2550438849 ZBTB20 Health Risk Pathogenic —
RS2550438978 ZBTB20 Health Risk Pathogenic —
RS2550439092 ZBTB20 Health Risk Likely pathogenic Primrose syndrome, Primrose syndrome
RS2550439129 ZBTB20 Health Risk Pathogenic —
RS2550499110 ZBTB20 Health Risk Likely pathogenic —
RS2550499342 ZBTB20 Health Risk Likely pathogenic —
RS2550499377 ZBTB20 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2550499967 ZBTB20 Health Risk Pathogenic —
RS2550501131 MTHFD1 Health Risk Pathogenic —
RS2550501254 ZBTB20 Health Risk Likely pathogenic Primrose syndrome, Primrose syndrome
RS2550501344 ZBTB20 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2550502656 MTHFD1 Health Risk Likely pathogenic —
RS2550503069 ZBTB20 Health Risk Likely pathogenic Primrose syndrome, Primrose syndrome
RS2550503155 ZBTB20 Health Risk Pathogenic Primrose syndrome, Primrose syndrome
RS2550504926 MTHFD1 Health Risk Likely pathogenic —
RS2550505030 ZBTB20 Health Risk Pathogenic —
RS2550505688 ZBTB20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Primrose syndrome
RS2550508430 MTHFD1 Health Risk Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS2550581823 HSPG2 Health Risk Likely pathogenic Schwartz-Jampel syndrome type 1, Schwartz-Jampel syndrome type 1
RS2550601121 HSPG2 Health Risk Pathogenic —
RS2550603288 HSPG2 Health Risk Pathogenic —
RS2550621846 HSPG2 Health Risk Likely pathogenic Lethal Kniest-like syndrome, Lethal Kniest-like syndrome
RS2550633710 HSPG2 Health Risk Pathogenic —
RS2550658119 KCNMA1 Health Risk Likely pathogenic Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS2550665451 HSPG2 Health Risk Pathogenic Schwartz-Jampel syndrome type 1, Schwartz-Jampel syndrome type 1
RS2550675452 HSPG2 Health Risk Likely pathogenic —
RS2550682749 HSPG2 Health Risk Likely pathogenic —
RS2550684541 CRB2 Health Risk Pathogenic —
RS2550684752 MYT1L Health Risk Pathogenic Intellectual disability, autosomal dominant 39
RS2550684781 MYT1L Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2550687725 CRB2 Health Risk Conflicting classifications of pathogenicity Ventriculomegaly-cystic kidney disease, Ventriculomegaly-cystic kidney disease
RS2550688194 CRB2 Health Risk Pathogenic —
RS2550691751 ARHGAP5 Health Risk Likely pathogenic Martsolf syndrome 1, Martsolf syndrome 1
RS2550701604 MYT1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 39
RS2550702880 MYT1L Health Risk Pathogenic —
RS2550709678 SYNE2 Health Risk Likely pathogenic Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS2550711719 HSPG2 Health Risk Pathogenic —
RS2550728484 HSPG2 Health Risk Pathogenic —
RS2550748924 HSPG2 Health Risk Pathogenic —
RS2550764807 HSPG2 Health Risk Likely pathogenic —
RS2550792393 HSPG2 Health Risk Pathogenic —
RS2550794884 HSPG2 Health Risk Pathogenic —
RS2550800597 HSPG2 Health Risk Likely pathogenic Schwartz-Jampel syndrome type 1, Schwartz-Jampel syndrome type 1
RS2550801637 HSPG2 Health Risk Pathogenic —
RS2550813912 MYT1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 39
RS2550814217 MYT1L Health Risk Pathogenic Intellectual disability, autosomal dominant 39
RS2550820203 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2550829388 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2550842376 HERC1 Health Risk Likely pathogenic Macrocephaly, dysmorphic facies
RS2550858065 MYT1L Health Risk Pathogenic —
RS2550863830 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2550870899 MYT1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 39
RS2550897780 MYT1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 39
RS2550898220 MYT1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 39
RS2550898327 MYT1L Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 39
RS2550904760 HERC1 Health Risk Pathogenic —
RS2550905546 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2550910145 BRCA1 Health Risk Pathogenic —
RS2550916533 MYT1L Health Risk Pathogenic —
RS2550936199 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2550948129 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2550983705 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2551001473 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2551024138 MYT1L Health Risk Pathogenic MYT1L-related disorder, MYT1L-related disorder
RS2551026441 MYT1L Health Risk Pathogenic Intellectual disability, autosomal dominant 39
RS2551029666 MYT1L Health Risk Pathogenic Intellectual disability, autosomal dominant 39
RS2551032977 SYNE1 Health Risk Pathogenic Arthrogryposis multiplex congenita 3, myogenic type
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