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
RS2054335480 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2054340255 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2054342764 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS2054360719 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2054374864 KIF1A Health Risk Likely pathogenic Hereditary spastic paraplegia 30, Neuropathy
RS2054377646 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS2054381012 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2054384043 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2054437773 CHD2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2054462667 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2054480330 FANCI Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2054482551 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group I
RS2054514265 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2054514589 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2054514812 CHD2 Health Risk Likely pathogenic —
RS2054534882 TSEN2 Health Risk Pathogenic Pontocerebellar hypoplasia type 2B, Pontocerebellar hypoplasia type 2B
RS2054549834 KIF1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 9
RS2054564830 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2054612323 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2054632888 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2054639807 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2054641544 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2054667046 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS2054671671 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2054675041 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2054675893 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2054677202 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2054683190 CACNA1A Health Risk Pathogenic —
RS2054684036 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2054689945 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2054690270 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2054692582 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2054694217 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2054700180 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2054700381 FANCI Health Risk Pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2054707218 FANCI Health Risk Pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2054719760 CACNA1A Health Risk Likely pathogenic —
RS2054721635 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2054752278 KIF1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 9
RS2054755647 KIF1A Health Risk Likely pathogenic Hereditary spastic paraplegia 30, Inborn genetic diseases
RS2054757914 KIF1A Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 30, Neuropathy
RS2054761091 KIF1A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2054763570 KIF1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 9
RS2054770216 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2054775391 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group I, Fanconi anemia
RS2054785999 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2054786724 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2054809165 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2054856814 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2054868908 CSGALNACT1 Health Risk Likely pathogenic Skeletal dysplasia, mild
RS2054893955 FKRP Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS2054899311 FKRP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy
RS2054912295 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS2054921636 FKRP Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS2054923228 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy type B5
RS2054926451 FKRP Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS2054927620 FKRP Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS2054929597 FKRP Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS2054934490 FKRP Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS2054934925 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2055011579 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2055026560 FANCI Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2055064647 KIF1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 9
RS2055066583 SLC12A3 Health Risk Pathogenic —
RS2055071198 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2055071377 SLC12A3 Health Risk Likely pathogenic —
RS2055071588 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2055072815 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2055081574 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2055082369 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2055084531 SLC12A3 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Familial hypokalemia-hypomagnesemia
RS2055101555 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2055103568 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2055109918 SLC12A3 Health Risk Pathogenic —
RS2055132665 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2055152944 DCC Health Risk Pathogenic —
RS2055157360 PIGB Health Risk Pathogenic —
RS2055161717 COMP Health Risk Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS2055164276 COMP Health Risk Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS2055164523 COMP Health Risk Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS2055165476 COMP Health Risk Pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1
RS2055168912 COMP Health Risk Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS2055169002 COMP Health Risk Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1
RS2055169544 COMP Health Risk Likely pathogenic —
RS2055181124 KIF1A Health Risk Likely pathogenic Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30
RS2055182636 MALT1 Health Risk Pathogenic Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency
RS2055184939 COMP Health Risk Pathogenic/Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1
RS2055186059 COMP Health Risk Pathogenic —
RS2055186253 FANCI Health Risk Pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2055189357 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2055190908 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2055203969 SLC12A3 Health Risk Pathogenic —
RS2055205599 COMP Health Risk Pathogenic Carpal tunnel syndrome 2, Carpal tunnel syndrome 2
RS2055210001 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2055211978 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2055221235 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2055237596 CEP152 Health Risk Likely pathogenic —
RS2055253295 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2055253871 SLC12A3 Health Risk Pathogenic —
RS2055258563 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
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