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
RS1567878012 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS1567878148 BRIP1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1567878234 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1567878511 CHD3 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1567880135 DNAH9 Health Risk Pathogenic/Likely pathogenic —
RS1567880628 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS1567882296 FOXN1 Health Risk Likely pathogenic —
RS1567885658 GRN Health Risk Pathogenic Frontotemporal dementia, GRN-related disorder
RS1567885728 GRN Health Risk Likely pathogenic Alzheimer disease, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS1567886206 GRN Health Risk Pathogenic Frontotemporal dementia, Frontotemporal dementia
RS1567886445 GRN Health Risk Pathogenic Frontotemporal dementia, Frontotemporal dementia
RS1567886478 GRN Health Risk Pathogenic Frontotemporal dementia, Frontotemporal dementia
RS1567886959 FOXN1 Health Risk Likely pathogenic —
RS1567887004 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS1567887015 GRN Health Risk Pathogenic Frontotemporal dementia, Frontotemporal dementia
RS1567887496 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS1567887558 FOXN1 Health Risk Pathogenic T-cell immunodeficiency, congenital alopecia
RS1567887567 GRN Health Risk Pathogenic —
RS1567887777 GRN Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia, Melanoma
RS1567888461 GRN Health Risk Pathogenic Frontotemporal dementia, Frontotemporal dementia
RS1567890245 NAGLU Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS1567890328 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS1567891258 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS1567892272 ACOX1 Health Risk Pathogenic/Likely pathogenic Acyl-CoA oxidase deficiency, Mitchell syndrome
RS1567893399 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS1567894363 NAGLU Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS1567895448 MC2R Health Risk Pathogenic/Likely pathogenic Glucocorticoid deficiency 1, Glucocorticoid deficiency 1
RS1567898633 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia 1, Glanzmann thrombasthenia 1
RS1567902051 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1567903706 TRIM37 Health Risk Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS1567903711 COASY Health Risk Pathogenic —
RS1567904066 COASY Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 6, Neurodegeneration with brain iron accumulation 6
RS1567906131 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, ITGA2B-related disorder
RS1567909915 FDXR Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1567910274 SOX9 Health Risk Pathogenic —
RS1567910317 SOX9 Health Risk Likely pathogenic —
RS1567910689 SOX9 Health Risk Pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS1567911132 SOX9 Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS1567914459 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS1567914835 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS1567915763 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS1567917533 RAI1 Health Risk Pathogenic —
RS1567920106 TLK2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 57
RS1567920209 TLK2 Health Risk Pathogenic Intellectual disability, autosomal dominant 57
RS1567922807 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1567923524 PYCR1 Health Risk Pathogenic/Likely pathogenic Cutis laxa, Cutis laxa
RS1567924625 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS1567926386 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS1567926766 RAI1 Health Risk Pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS1567928509 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS1567933176 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
RS1567933730 SPG7 Health Risk Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS1567934181 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS1567934720 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy
RS1567934754 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS1567934773 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS1567938478 MED13 Health Risk Likely pathogenic CDK8-kinase module-associated disorder, CDK8-kinase module-associated disorder
RS1567939718 USH1G Health Risk Pathogenic/Likely pathogenic Hearing impairment, Hearing impairment
RS1567939793 USH1G Health Risk Pathogenic/Likely pathogenic Deafness, Hearing loss
RS1567940265 MED13 Health Risk Pathogenic —
RS1567940507 USH1G Health Risk Likely pathogenic Hearing impairment, Hearing impairment
RS1567941252 PCGF2 Health Risk Likely pathogenic Abnormality of the outer ear, Intellectual disability
RS1567941256 PCGF2 Health Risk Likely pathogenic Turnpenny-fry syndrome, Inborn genetic diseases
RS1567941557 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS1567941869 USH1G Health Risk Pathogenic —
RS1567944248 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS1567945632 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS1567945684 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS1567945702 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS1567945743 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1567946170 TTR Health Risk Conflicting classifications of pathogenicity Amyloidosis, hereditary systemic 1
RS1567948262 TLK2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 57
RS1567948287 TLK2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 57
RS1567948623 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS1567949544 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1567950778 TMEM94 Health Risk Likely pathogenic Intellectual developmental disorder with cardiac defects and dysmorphic facies, Intellectual developmental disorder with cardiac defects and dysmorphic facies
RS1567951608 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1567954436 PSMD12 Health Risk Pathogenic —
RS1567955779 PSMD12 Health Risk Pathogenic —
RS1567956946 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS1567958264 PIEZO2 Health Risk Pathogenic Arthrogryposis, distal
RS1567958644 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS1567961680 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS1567961697 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS1567963883 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1567965313 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1567965488 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS1567966432 GREB1L Health Risk Likely pathogenic Short stature, Short stature
RS1567966452 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1567967721 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS1567969825 CNTNAP1 Health Risk Pathogenic Neuropathy, congenital hypomyelinating
RS1567971126 CLTC Health Risk Likely pathogenic —
RS1567971476 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS1567973075 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1567973088 CNTNAP1 Health Risk Pathogenic Neuropathy, congenital hypomyelinating
RS1567973091 CNTNAP1 Health Risk Pathogenic Arthrogryposis, distal
RS1567974030 TLK2 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 57
RS1567975588 MED13 Health Risk Pathogenic —
RS1567977251 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1567977657 PPM1D Health Risk Pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
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