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
RS1565677720 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS1565678077 IRAK4 Health Risk Pathogenic Immunodeficiency 67, Immunodeficiency 67
RS1565679039 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS1565679062 COL2A1 Health Risk Pathogenic Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia congenita
RS1565681966 COL2A1 Health Risk Likely pathogenic Achondrogenesis type II, Achondrogenesis type II
RS1565683138 COL2A1 Health Risk Pathogenic Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS1565683713 COL2A1 Health Risk Pathogenic —
RS1565684864 COL2A1 Health Risk Pathogenic —
RS1565686170 COL2A1 Health Risk Likely pathogenic Kniest dysplasia, Kniest dysplasia
RS1565686236 COL2A1 Health Risk Likely pathogenic —
RS1565686896 COL2A1 Health Risk Pathogenic —
RS1565688667 IRAK4 Health Risk Pathogenic Immunodeficiency 67, Immunodeficiency 67
RS1565689206 RAPSN Health Risk Pathogenic/Likely pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS1565690660 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1565695139 ZNF408 Health Risk Likely pathogenic Exudative vitreoretinopathy 6, Exudative vitreoretinopathy 6
RS1565705251 KIF5A Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1565706229 EED Health Risk Likely pathogenic Cohen-Gibson syndrome, Cohen-Gibson syndrome
RS1565707103 NUP107 Health Risk Likely pathogenic Nephrotic syndrome, type 11
RS1565715468 WNT10B Health Risk Likely pathogenic Split hand-foot malformation 6, Split hand-foot malformation 6
RS1565731811 PPP1R12A Health Risk Conflicting classifications of pathogenicity PPP1R12A-related disorder, Genitourinary and/or brain malformation syndrome
RS1565731854 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Atrial fibrillation
RS1565750784 HMBS Health Risk Pathogenic Porphyria, acute intermittent
RS1565753611 KMT2D Health Risk Pathogenic Kabuki syndrome 1, See cases
RS1565754285 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS1565754296 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS1565754452 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS1565754565 HMBS Health Risk Pathogenic Acute intermittent porphyria, Ovarian serous cystadenocarcinoma
RS1565755161 GDF2 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1565755242 HMBS Health Risk Pathogenic —
RS1565756106 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome
RS1565756115 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome 1
RS1565756481 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS1565756561 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1565756770 GRIP1 Health Risk Likely pathogenic Fraser syndrome 3, Fraser syndrome 3
RS1565757839 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS1565757857 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS1565758008 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS1565758795 HMBS Health Risk Likely pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS1565758825 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS1565759674 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS1565763192 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1565766888 KRT85 Health Risk Pathogenic Ectodermal dysplasia 4, hair/nail type
RS1565767178 RBP3 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1565771606 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1565773113 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1565773662 KMT2D Health Risk Pathogenic —
RS1565776390 AAAS Health Risk Pathogenic —
RS1565776616 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1565776684 LEMD3 Health Risk Pathogenic Dermatofibrosis lenticularis disseminata, isolated
RS1565778024 KMT2D Health Risk Pathogenic —
RS1565779294 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1565779530 KMT2D Health Risk Pathogenic Kabuki syndrome, Cavernous sinus meningioma
RS1565780936 KMT2D Health Risk Pathogenic Kabuki syndrome, Branchial cleft anomaly
RS1565781216 KMT2D Health Risk Likely pathogenic Kabuki syndrome, Kabuki syndrome
RS1565781382 AAAS Health Risk Pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS1565785959 LRP4 Health Risk Pathogenic Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17
RS1565788703 KMT2D Health Risk Pathogenic —
RS1565789104 KMT2D Health Risk Pathogenic Complement component C1s deficiency, Complement component C1s deficiency
RS1565789522 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1565790685 KMT2D Health Risk Pathogenic —
RS1565790749 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome 1
RS1565790767 LRP4 Health Risk Pathogenic Sclerosteosis 2, Cenani-Lenz syndactyly syndrome
RS1565791664 LEMD3 Health Risk Likely pathogenic Dermatofibrosis lenticularis disseminata, Dermatofibrosis lenticularis disseminata
RS1565798201 SUOX Health Risk Pathogenic Inborn genetic diseases, Sulfite oxidase deficiency
RS1565798380 SUOX Health Risk Likely pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS1565798439 ZFC3H1 Health Risk Likely pathogenic Short stature, Short stature
RS1565798715 KMT2D Health Risk Pathogenic —
RS1565799131 LEMD3 Health Risk Pathogenic/Likely pathogenic Dermatofibrosis lenticularis disseminata, Dermatofibrosis lenticularis disseminata
RS1565799921 SUOX Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS1565801326 LRP4 Health Risk Pathogenic Cenani-Lenz syndactyly syndrome, Cenani-Lenz syndactyly syndrome
RS1565802369 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1565804175 KMT2D Health Risk Likely pathogenic Kabuki syndrome, Kabuki syndrome
RS1565806829 VWF Health Risk Likely pathogenic —
RS1565807707 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1565809409 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS1565809463 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1565809478 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS1565809597 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1565809867 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1565809995 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1565810107 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS1565810183 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1565810301 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1565810563 CYP27B1 Health Risk Pathogenic —
RS1565811124 CYP27B1 Health Risk Pathogenic —
RS1565812092 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome 1
RS1565813691 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome 1
RS1565814492 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS1565814529 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS1565817210 KMT2D Health Risk Likely pathogenic Kabuki syndrome, Kabuki syndrome
RS1565817219 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kabuki syndrome
RS1565818580 ITGB1 Health Risk risk factor Neural tube defect, Neural tube defect
RS1565819402 PTPRQ Health Risk Pathogenic/Likely pathogenic Deafness, Hearing loss
RS1565819425 KMT2D Health Risk Likely pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS1565820584 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1565821736 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1565822457 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1565822519 CEP290 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1565823841 TSFM Health Risk Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS1565824978 TBK1 Health Risk Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
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