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
RS775979290 BEST1;FTH1 Health Risk Conflicting classifications of pathogenicity Vitelliform macular dystrophy 2, Autosomal recessive bestrophinopathy
RS775980475 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS775980710 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS775981553 UBE3B Health Risk Pathogenic Inborn genetic diseases, Oculocerebrofacial syndrome
RS775982074 ANO6 Health Risk Conflicting classifications of pathogenicity —
RS775982338 SERPINA1 Health Risk Pathogenic PI M(MALTON), Alpha-1-antitrypsin deficiency
RS775982546 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, Inborn genetic diseases
RS775986509 SDHD Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Paragangliomas with sensorineural hearing loss
RS775987152 ABCA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS775987562 COL7A1 Health Risk Conflicting classifications of pathogenicity 7 conditions, 7 conditions
RS775988188 SQSTM1 Health Risk Conflicting classifications of pathogenicity Paget disease of bone 3, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
RS775988212 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Cardiovascular phenotype
RS775988576 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS775989680 EYA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 10, Dilated cardiomyopathy 1J
RS775990159 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS775990266 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS775990510 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, EP300-related disorder
RS775991013 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS775991900 CYP19A1 Health Risk Conflicting classifications of pathogenicity Aromatase deficiency, Aromatase deficiency
RS775992753 CBS Health Risk Pathogenic/Likely pathogenic Classic homocystinuria, Homocystinuria
RS775994398 SI Health Risk Pathogenic —
RS775994643 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Inborn genetic diseases
RS775995156 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS775995985 PXDN Health Risk Conflicting classifications of pathogenicity Anterior segment dysgenesis 7, PXDN-related disorder
RS775997344 ADA2 Health Risk Pathogenic/Likely pathogenic Deficiency of adenosine deaminase 2, Sneddon syndrome
RS775997446 LGI4 Health Risk Pathogenic Arthrogryposis multiplex congenita 1, neurogenic
RS775997908 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS775998762 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS776000121 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS776001696 TOPORS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 31, Retinitis pigmentosa 31
RS776002066 ATP7B Health Risk Pathogenic Wilson disease, Inborn genetic diseases
RS776003330 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS776003939 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS776004321 MKKS Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS776004500 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS776004614 COL11A1 Health Risk Pathogenic/Likely pathogenic COL11A1-related disorder, COL11A1-related disorder
RS776005012 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS776005417 FIG4 Health Risk Pathogenic Amyotrophic lateral sclerosis type 11, Bilateral parasagittal parieto-occipital polymicrogyria
RS776008411 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776008744 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS776009102 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome
RS776010326 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS776013099 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS776013456 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS776014180 FLG Health Risk Pathogenic —
RS776014448 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Renal cell carcinoma
RS776014770 RHO Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa
RS776015412 IVD Health Risk Pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS776016821 NPHS2 Health Risk Pathogenic Nephrotic syndrome, type 2
RS776016942 NPHS2 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 2
RS776016983 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS776017580 COL9A3 Health Risk Conflicting classifications of pathogenicity —
RS776018262 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS776019250 TIMM50 Health Risk Pathogenic Mitochondrial encephalopathy, 3-methylglutaconic aciduria type 9
RS776019614 TRIM37 Health Risk Conflicting classifications of pathogenicity Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS776021061 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS776023104 IL6ST Health Risk Pathogenic —
RS776023179 IQCB1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS776023608 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS776023990 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS776024035 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS776024427 AIPL1 Health Risk Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 4
RS776024454 SBF1 Health Risk Conflicting classifications of pathogenicity —
RS776024669 KRIT1 Health Risk Likely pathogenic KRIT1-related disorder, KRIT1-related disorder
RS7760248 GRM1 Health Risk Conflicting classifications of pathogenicity GRM1-related disorder, GRM1-related disorder
RS776024837 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS776025009 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS776025785 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS776026092 SLC9A3 Health Risk Pathogenic Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8
RS776026998 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS776027191 RP1 Health Risk Likely pathogenic —
RS776027265 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS776027296 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS776027340 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
RS776027486 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, MYO5B-related disorder
RS776027586 SPTBN1 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS776028181 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS776028509 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS776030392 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776031352 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS776031396 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS776033844 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS776034412 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS776034417 PRKD1 Health Risk Conflicting classifications of pathogenicity Congenital heart defects and ectodermal dysplasia, Congenital heart defects and ectodermal dysplasia
RS776034810 ASPM Health Risk Likely pathogenic Autosomal recessive primary microcephaly, Autosomal recessive primary microcephaly
RS776035233 LCAT Health Risk Pathogenic LCAT deficiency, LCAT deficiency
RS776036012 COL2A1 Health Risk Likely pathogenic —
RS776036392 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS776036883 CCND2 Health Risk Likely pathogenic Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
RS776036994 COL4A4 Health Risk Likely pathogenic Benign familial hematuria, COL4A4-related disorder
RS776037240 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS776038451 PIGH Health Risk Pathogenic Glycosylphosphatidylinositol biosynthesis defect 17, Glycosylphosphatidylinositol biosynthesis defect 17
RS776039868 STRC Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS776039903 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Gastrointestinal stromal tumor
RS776039984 MED13L Health Risk Conflicting classifications of pathogenicity Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Dextro-looped transposition of the great arteries
RS776040052 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS776040132 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS776042162 RAB3GAP1 Health Risk Conflicting classifications of pathogenicity —
RS776042207 ABCA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS776043296 ALG12 Health Risk Conflicting classifications of pathogenicity ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
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