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
RS1554777733 STXBP1 Health Risk Likely pathogenic Infantile epilepsy syndrome, Infantile epilepsy syndrome
RS1554777919 STXBP1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554777932 STXBP1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1554778005 POMT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS1554778082 KCNT1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 14
RS1554778215 STXBP1 Health Risk Pathogenic —
RS1554778227 STXBP1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554778379 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS1554778417 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS1554778509 STXBP1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554778657 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS1554778676 STXBP1 Health Risk Likely pathogenic —
RS1554778928 STXBP1 Health Risk Pathogenic Infantile epilepsy syndrome, Infantile epilepsy syndrome
RS1554778930 STXBP1 Health Risk Pathogenic Infantile epilepsy syndrome, Infantile epilepsy syndrome
RS1554778941 STXBP1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554779944 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS1554780670 POMT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS1554781545 DNM1 Health Risk Likely pathogenic —
RS1554781552 DNM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1554781553 DNM1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 31A
RS1554781678 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1554781700 COL5A1 Health Risk Likely pathogenic 13 conditions, 13 conditions
RS1554784044 SLC34A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS1554784508 SLC34A3 Health Risk Pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS1554784939 PHYH Health Risk Likely pathogenic Phytanic acid storage disease, Phytanic acid storage disease
RS1554785113 PHYH Health Risk Pathogenic —
RS1554785114 ADAMTS13 Health Risk Likely pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS1554785333 SLC34A3 Health Risk Pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS1554785389 SLC34A3 Health Risk Pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS1554785772 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS1554786802 TUBB4B Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis with early-onset deafness, Leber congenital amaurosis with early-onset deafness
RS1554786803 TUBB4B Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis with early-onset deafness, Leber congenital amaurosis with early-onset deafness
RS1554787096 WAC Health Risk Pathogenic —
RS1554787366 COL27A1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554787509 ERCC6 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
RS1554787526 COL5A1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS1554787554 ERCC6 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
RS1554787557 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1554787559 COL27A1 Health Risk Pathogenic Steel syndrome, Steel syndrome
RS1554787779 COL5A1 Health Risk Likely pathogenic Connective tissue disorder, Connective tissue disorder
RS1554787811 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1554788238 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554788339 COL5A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1554789246 ZMYND11 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 30
RS1554789393 ERCC6 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
RS1554789398 LAMC3 Health Risk Likely pathogenic —
RS1554789671 LAMC3 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554789680 ADAMTS13 Health Risk Likely pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS1554790012 ERCC6 Health Risk Pathogenic —
RS1554790861 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS1554791124 WAC Health Risk Pathogenic/Likely pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS1554791280 ADAMTS13 Health Risk Pathogenic Thrombotic thrombocytopenic purpura, Thrombotic thrombocytopenic purpura
RS1554791360 DHTKD1 Health Risk Pathogenic/Likely pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS1554791943 WAC Health Risk Pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, Inborn genetic diseases
RS1554791965 WAC Health Risk Pathogenic —
RS1554791975 WAC Health Risk Likely pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, Acute myeloid leukemia
RS1554792005 COL5A1 Health Risk Likely pathogenic —
RS1554792011 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1554792556 ZMYND11 Health Risk Pathogenic Inborn genetic diseases, Intellectual disability
RS1554792869 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1554793174 ERCC6 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS1554793270 ERCC6 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS1554793294 ZMYND11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1554793305 ERCC6 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 1, Cerebrooculofacioskeletal syndrome 1
RS1554793379 ADAMTS13 Health Risk Likely pathogenic —
RS1554793521 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554793896 ZMYND11 Health Risk Pathogenic —
RS1554794073 ERCC6 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS1554794342 ERCC6 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554794360 ERCC6 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
RS1554794590 ERCC6 Health Risk Pathogenic/Likely pathogenic 7 conditions, 7 conditions
RS1554794620 ERCC6 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS1554794640 ERCC6 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS1554794641 ERCC6 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
RS1554794844 GATA3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554794885 GATA3 Health Risk Pathogenic —
RS1554794901 GATA3 Health Risk Pathogenic —
RS1554795391 ADAMTS13 Health Risk Likely pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS1554795505 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS1554796161 ADAMTS13 Health Risk Likely pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS1554796176 COL5A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1554796655 COQ4 Health Risk Pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
RS1554797078 ADAMTS13 Health Risk Likely pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS1554797626 ZEB1 Health Risk Pathogenic/Likely pathogenic Posterior polymorphous corneal dystrophy 3, Corneal dystrophy
RS1554798918 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1554799402 COL5A1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1554800065 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Thrombocytopenia
RS1554800550 SLC18A3 Health Risk Likely pathogenic —
RS1554800621 SLC18A3 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 21, Congenital myasthenic syndrome 21
RS1554800734 SLC18A3 Health Risk Likely pathogenic —
RS1554801819 SETX Health Risk Likely pathogenic —
RS1554802792 CHAT Health Risk Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS1554802808 CHAT Health Risk Pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS1554803622 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1554804809 SETX Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1554805076 COL5A1 Health Risk Pathogenic —
RS1554805142 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1554805638 COL5A1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1554806149 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1554806670 COL5A1 Health Risk Likely pathogenic —
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