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
RS186694298 LMF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Lipase deficiency
RS186695833 RHOBTB2 Health Risk Conflicting classifications of pathogenicity —
RS186699341 TBCD Health Risk Conflicting classifications of pathogenicity Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Inborn genetic diseases
RS186699871 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myopathy
RS186703073 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS1867034667 MTMR2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS186704689 SLC6A5 Health Risk Pathogenic Hyperekplexia 3, Hyperekplexia 3
RS186705952 PEX7 Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS186709388 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS186710233 PCCB Health Risk Pathogenic Propionic acidemia, Inborn genetic diseases
RS186712522 RIN2 Health Risk Conflicting classifications of pathogenicity RIN2-related disorder, RIN2-related disorder
RS186713451 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 12, Bardet-Biedl syndrome
RS186717040 ATP6V0A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal renal tubular acidosis, Renal tubular acidosis
RS186717113 REN Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 2, Renal tubular dysgenesis
RS186717319 TUSC3 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation, Intellectual disability
RS186736134 EHHADH Health Risk Conflicting classifications of pathogenicity EHHADH-related disorder, EHHADH-related disorder
RS186736979 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS186739900 AICDA Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
RS186741807 CACNA1C Health Risk Conflicting classifications of pathogenicity Congestive heart failure, Long QT syndrome
RS186745328 WWOX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS186746130 FGFR1 Health Risk Conflicting classifications of pathogenicity Craniosynostosis syndrome, Pfeiffer syndrome
RS186746372 PTPRQ Health Risk Conflicting classifications of pathogenicity —
RS186756601 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS1867604292 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS186763441 FMO3 Health Risk Conflicting classifications of pathogenicity Trimethylaminuria, FMO3-related disorder
RS186768244 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS186771094 LAMB2 Health Risk Conflicting classifications of pathogenicity Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS186774726 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS186775751 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS186780639 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21
RS186788522 DST Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS186794216 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS186809500 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS186810296 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, OTOF-related disorder
RS186812006 FCHO1 Health Risk Conflicting classifications of pathogenicity —
RS186812403 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS186814909 NPR3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS186818985 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS186820592 RBBP8 Health Risk Conflicting classifications of pathogenicity Jawad syndrome, Seckel syndrome 2
RS186822052 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS186823009 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS186823399 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS186828918 NPHP3 Health Risk Conflicting classifications of pathogenicity Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome
RS186829587 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS186829827 PLCG2 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
RS186834921 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS186836845 COL12A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ullrich congenital muscular dystrophy 2
RS186838169 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS186838828 SCN9A Health Risk Conflicting classifications of pathogenicity Channelopathy-associated congenital insensitivity to pain, autosomal recessive
RS186839881 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1868403104 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1868408180 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1868424934 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS186842823 KCNJ2 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS186842903 DSP Health Risk Conflicting classifications of pathogenicity Woolly hair-skin fragility syndrome, Arrhythmogenic right ventricular dysplasia 8
RS1868480299 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1868481514 SACS Health Risk Pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS186851083 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Familial cancer of breast
RS1868517084 IFT81 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 19 with or without polydactyly, Short-rib thoracic dysplasia 19 with or without polydactyly
RS1868532995 LEMD3 Health Risk Pathogenic —
RS1868561938 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1868567420 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS186857044 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1868578034 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS186859429 GNAL Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Inborn genetic diseases
RS186859701 NPRL3 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS1868615639 SACS Health Risk Pathogenic —
RS1868618470 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1868624031 TBX3 Health Risk Likely pathogenic —
RS1868626730 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1868628768 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS186864136 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Autoinflammatory syndrome
RS1868641702 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS186864205 TP63 Health Risk Conflicting classifications of pathogenicity Orofacial cleft 8, Ectrodactyly
RS186864272 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Susceptibility to mononeuropathy of the median nerve
RS186864802 MMAB Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
RS186865544 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, DIS3L2-related disorder
RS186866326 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS186867242 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS1868687508 MIP Health Risk Likely pathogenic Cataract 15 multiple types, Cataract 15 multiple types
RS1868700605 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1868706209 TBX3 Health Risk Likely pathogenic Ulnar-mammary syndrome, Ulnar-mammary syndrome
RS1868755540 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS186878627 SLC5A5 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
RS186881889 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS186882443 HTT Health Risk Conflicting classifications of pathogenicity —
RS186882839 CRPPA Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS186883352 SRCAP Health Risk Conflicting classifications of pathogenicity Floating-Harbor syndrome, Developmental delay
RS1868854677 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1868862742 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1868872666 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1868886361 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1868888758 TBX5 Health Risk Pathogenic —
RS1868900449 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1868908326 TBX3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1868915593 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1868917066 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS186892978 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS1868929983 SACS Health Risk Pathogenic —
RS186893286 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
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