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
RS1466595320 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS146659822 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa
RS146660038 GYS2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
RS1466604623 GDF1 Health Risk Pathogenic —
RS1466606544 AFG3L2 Health Risk Likely pathogenic —
RS146661220 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS146661281 FOXRED1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS146661687 LRRC8A Health Risk Conflicting classifications of pathogenicity LRRC8A-related disorder, LRRC8A-related disorder
RS146662384 CEP41 Health Risk Likely pathogenic Familial Autism Spectrum Disorder, Familial Autism Spectrum Disorder
RS146663357 KHDC3L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1466637488 PIGT Health Risk Conflicting classifications of pathogenicity —
RS146664036 DONSON Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Microcephaly-micromelia syndrome
RS146664099 LHX4 Health Risk Conflicting classifications of pathogenicity Short stature-pituitary and cerebellar defects-small sella turcica syndrome, Inborn genetic diseases
RS146664125 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, DUOX2-related disorder
RS1466642025 FARSB Health Risk Pathogenic Cirrhosis of liver, Cerebral calcification
RS1466647338 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS146664754 CASQ2 Health Risk Conflicting classifications of pathogenicity Polymorphic ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia 2
RS1466647934 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1466648123 CTSD Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS146665183 DLL4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DLL4-related disorder
RS1466666397 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1466669135 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS1466678870 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS146667935 LRP5 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS146668256 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1466688245 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS146668864 CDH2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146668962 MMAB Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
RS146669152 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1466692709 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1466693703 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS146669648 MYH8 Health Risk Conflicting classifications of pathogenicity Hecht syndrome, MYH8-related disorder
RS146670074 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS1466705435 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS146670741 WFS1 Health Risk Conflicting classifications of pathogenicity Rare genetic deafness, Monogenic diabetes
RS146671871 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS146673560 VWA3B Health Risk Conflicting classifications of pathogenicity VWA3B-related disorder, VWA3B-related disorder
RS146673873 PIKFYVE Health Risk Conflicting classifications of pathogenicity Fleck corneal dystrophy, Inborn genetic diseases
RS146674765 CHRNG Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Inborn genetic diseases
RS1466750124 NPTX1 Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia 50, Inborn genetic diseases
RS1466752822 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS146675572 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS146676158 NRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146677260 TSPEAR Health Risk Pathogenic —
RS1466777621 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS146678221 PDHX Health Risk Conflicting classifications of pathogenicity —
RS1466787506 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1466787789 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1466800086 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS146680739 FLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1466809738 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS146680997 TUBA1A Health Risk Pathogenic/Likely pathogenic Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS146681342 SRCAP Health Risk Conflicting classifications of pathogenicity SRCAP-related disorder, Inborn genetic diseases
RS146681416 BTK Health Risk Likely pathogenic —
RS146681532 FMN2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 47
RS146682319 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS146682372 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS146682486 THOC6 Health Risk Likely pathogenic THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
RS146682651 SLC27A5 Health Risk Conflicting classifications of pathogenicity SLC27A5-related disorder, SLC27A5-related disorder
RS146682721 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS1466828817 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS146682905 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS146682969 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS146684391 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
RS146684402 CTNS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ocular cystinosis
RS146685071 EPCAM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS146685108 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS146685404 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS146685625 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder
RS146685901 USB1 Health Risk Conflicting classifications of pathogenicity Poikiloderma with neutropenia, Poikiloderma with neutropenia
RS146686141 FLG Health Risk Pathogenic/Likely pathogenic Ichthyosis vulgaris, Dermatitis
RS146686264 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146686863 GPAA1 Health Risk Conflicting classifications of pathogenicity Glycosylphosphatidylinositol biosynthesis defect 15, Inborn genetic diseases
RS146687496 EYA1 Health Risk Conflicting classifications of pathogenicity Melnick-Fraser syndrome, Inborn genetic diseases
RS146687572 APOB Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS146687581 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS146687604 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1466882490 ARID1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 14
RS1466885233 PGM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PGM1-congenital disorder of glycosylation
RS146688698 SPTB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SPTB-related disorder
RS146688972 CNGB3 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Achromatopsia
RS146689036 MPZL2 Health Risk Pathogenic Hearing loss, autosomal recessive 111
RS146689204 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1466892954 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS146690035 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS146690433 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS146690522 ERCC6 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1
RS1466912192 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS146691368 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS146692150 ATP7A Health Risk Conflicting classifications of pathogenicity History of neurodevelopmental disorder, Menkes kinky-hair syndrome
RS146692547 AFP Health Risk Likely pathogenic Premature ovarian failure, Premature ovarian failure
RS146692656 DLC1 Health Risk Conflicting classifications of pathogenicity DLC1-related disorder, Colorectal cancer
RS146692911 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Malignant tumor of esophagus
RS146693439 CHKB Health Risk Conflicting classifications of pathogenicity Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS146693681 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, MYO3A-related disorder
RS1466946196 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS146694795 FOXN1 Health Risk Conflicting classifications of pathogenicity T-cell immunodeficiency, congenital alopecia
RS146695489 ABCC8 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Diabetes mellitus
RS146696298 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS146696580 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
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