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
RS1248291721 CYP1B1 Health Risk Pathogenic/Likely pathogenic Congenital glaucoma, Anterior segment dysgenesis 6
RS1248299502 FBP1 Health Risk Conflicting classifications of pathogenicity Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS1248333537 NLRP12 Health Risk Likely pathogenic Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
RS1248346344 UFC1 Health Risk Pathogenic Neurodevelopmental disorder with spasticity and poor growth, Neurodevelopmental disorder with spasticity and poor growth
RS1248355799 RYR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Malignant hyperthermia
RS1248359114 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C
RS1248364576 TMEM127 Health Risk Likely pathogenic Pheochromocytoma, Pheochromocytoma
RS1248401224 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS1248406777 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1248414885 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1248439783 MSTO1 Health Risk Pathogenic Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
RS1248460033 LCA5 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1248460683 HIBCH Health Risk Pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS1248502995 PLOD2 Health Risk Pathogenic —
RS1248510232 COL27A1 Health Risk Pathogenic —
RS1248510301 PLOD2 Health Risk Likely pathogenic Bruck syndrome 2, Bruck syndrome 2
RS1248511242 CSF3R Health Risk Likely pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS1248511253 GLE1 Health Risk Likely pathogenic —
RS1248531611 CHD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Snijders Blok-Campeau syndrome
RS1248541208 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1248541873 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1248548542 BLM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Bloom syndrome
RS1248550491 TMEM218 Health Risk Likely pathogenic Joubert syndrome 39, Joubert syndrome 39
RS1248579792 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1248588905 MYBPC3 Health Risk Likely pathogenic Left ventricular noncompaction 10, Left ventricular noncompaction 10
RS1248593195 PACS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1248594692 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young type 3
RS1248597388 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1248613652 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1248632205 CYP2U1 Health Risk Likely pathogenic Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56
RS1248636409 RSPH4A Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 11, Primary ciliary dyskinesia
RS1248645578 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS1248649998 TECTA Health Risk Conflicting classifications of pathogenicity —
RS1248665081 SCO2 Health Risk Pathogenic/Likely pathogenic Cardioencephalomyopathy, fatal infantile
RS1248671884 DHDDS Health Risk Likely pathogenic Retinitis pigmentosa 59, Developmental delay and seizures with or without movement abnormalities
RS1248710641 PNPLA8 Health Risk Pathogenic/Likely pathogenic Mitochondrial myopathy-lactic acidosis-deafness syndrome, Mitochondrial myopathy-lactic acidosis-deafness syndrome
RS1248710856 NR0B1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital adrenal hypoplasia
RS1248714399 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1248721633 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1248727589 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1248764875 DDX41 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1248780758 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1248788128 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS1248821695 GBE1 Health Risk Pathogenic Glycogen storage disease IV, classic hepatic
RS1248841709 ASIC5 Health Risk Pathogenic Pregnancy loss, recurrent
RS1248855623 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1248876880 CEBPA Health Risk Likely pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS1248886497 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS1248889536 LOXHD1 Health Risk Pathogenic/Likely pathogenic Deafness, Autosomal recessive nonsyndromic hearing loss 77
RS1248896048 PLPBP Health Risk Pathogenic Epilepsy, early-onset
RS1248898751 DHCR7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Smith-Lemli-Opitz syndrome
RS1248903104 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1248967430 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS1248967885 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1248986109 DOK7 Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS1248996138 COMP Health Risk Pathogenic —
RS1249016772 TIAM1 Health Risk Pathogenic Neurodevelopmental disorder with language delay and seizures, Neurodevelopmental disorder with language delay and seizures
RS1249046608 MINPP1 Health Risk Likely pathogenic MINPP1-related disorder, MINPP1-related disorder
RS1249046874 SDHC Health Risk Likely pathogenic Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS1249050389 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1249050822 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1249051895 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1249059283 USB1 Health Risk Likely pathogenic Poikiloderma with neutropenia, Poikiloderma with neutropenia
RS1249076926 IGHMBP2 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS1249087390 CYP11B1 Health Risk Pathogenic —
RS1249127983 TRIM32 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1249139977 MAGEL2 Health Risk Conflicting classifications of pathogenicity Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS1249144069 PITRM1 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive 30
RS1249145909 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa
RS1249149946 SEMA4A Health Risk Pathogenic Helicoid peripapillary chorioretinal degeneration, Helicoid peripapillary chorioretinal degeneration
RS1249171431 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1249187013 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1249197356 CD3E Health Risk Pathogenic Immunodeficiency 18, Immunodeficiency 18
RS1249209712 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1249210332 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS1249211050 KIF11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1249235758 PCCB Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS1249235767 MCCC2 Health Risk Conflicting classifications of pathogenicity Methylcrotonyl-CoA carboxylase deficiency, MCCC2-related disorder
RS1249246199 TONSL Health Risk Likely pathogenic TONSL-related disorder, TONSL-related disorder
RS1249246307 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1249251683 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS1249254589 UBR1 Health Risk Pathogenic —
RS1249303627 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1249313093 BCL11A Health Risk Likely pathogenic —
RS1249324100 ADAM17 Health Risk Pathogenic Inflammatory skin and bowel disease, neonatal
RS1249338494 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS1249347695 GATA4 Health Risk Likely pathogenic Atrioventricular septal defect 4, Atrioventricular septal defect 4
RS1249398093 ALDOB Health Risk Pathogenic/Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS1249398531 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS1249404804 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PALB2-related disorder
RS1249406161 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1249416688 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1249427615 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1249431423 ABCA12 Health Risk Conflicting classifications of pathogenicity —
RS1249437161 CACNA1F Health Risk Pathogenic/Likely pathogenic Congenital stationary night blindness 2A, X-linked cone-rod dystrophy 3
RS1249447410 OTOF Health Risk Likely pathogenic Hearing impairment, Hearing impairment
RS1249471315 MSH2 Health Risk Pathogenic Lynch-like syndrome, Lynch-like syndrome
RS1249489400 TGM1 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS1249492478 HOGA1 Health Risk Pathogenic —
RS1249494343 SRCAP Health Risk Likely pathogenic —
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