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
RS143663917 COL11A1 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Inborn genetic diseases
RS1436643226 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS143664472 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1436663696 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1436664364 LAMP2 Health Risk Likely pathogenic Danon disease, Danon disease
RS1436671530 PROC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Thrombophilia due to protein C deficiency
RS143667470 ERCC5 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS143667871 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1436692401 ABCC8 Health Risk Pathogenic/Likely pathogenic Type 2 diabetes mellitus, Hyperinsulinemic hypoglycemia
RS143669458 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS143670820 CDK4 Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS143670942 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS143671341 DHX38 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS143671774 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS143671872 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS143671993 C3 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly
RS143672318 RHBDF2 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases
RS1436725375 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1F
RS1436726865 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS1436734029 PRR12 Health Risk Likely pathogenic Neuroocular syndrome 1, Neuroocular syndrome 1
RS143673459 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS143674856 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS143676075 PIGV Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 1, Inborn genetic diseases
RS143676414 TCF20 Health Risk Conflicting classifications of pathogenicity Developmental delay with variable intellectual impairment and behavioral abnormalities, Inborn genetic diseases
RS143676440 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1436764763 PCYT2 Health Risk Likely pathogenic Spastic paraplegia 82, autosomal recessive
RS1436765596 COQ7 Health Risk Pathogenic Primary coenzyme Q10 deficiency 8, Neuronopathy
RS143676607 CD109 Health Risk Conflicting classifications of pathogenicity —
RS1436768029 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS143677057 MYF6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant centronuclear myopathy, Autosomal dominant centronuclear myopathy
RS143677534 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1436775364 CFI Health Risk Conflicting classifications of pathogenicity CFI-related disorder, CFI-related disorder
RS143677764 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1436778165 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS143678454 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder
RS143678523 TACC2 Health Risk Conflicting classifications of pathogenicity —
RS143678590 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS143678893 EVC Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS143679158 AUTS2 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS1436794246 LZTR1 Health Risk Pathogenic —
RS143679494 TICAM1 Health Risk Conflicting classifications of pathogenicity Herpes simplex encephalitis, susceptibility to
RS143679526 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS1436796227 TRIO Health Risk Pathogenic —
RS143679999 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1436804091 RSPH9 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS143680435 ABCG5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Sitosterolemia 2
RS143680532 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS143680577 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1436814142 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS143681974 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS143682303 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS143682914 MALT1 Health Risk Likely pathogenic Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency
RS143682977 EPB42 Health Risk Pathogenic Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS1436832739 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS143683496 KCNQ3 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS1436840056 DSG1 Health Risk Pathogenic —
RS143684274 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS1436844070 CASQ2 Health Risk Pathogenic/Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 2, Cardiovascular phenotype
RS1436850036 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS143685061 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS143685082 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS143685680 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1436857798 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS1436866272 PMPCB Health Risk Pathogenic Multiple mitochondrial dysfunctions syndrome 6, Multiple mitochondrial dysfunctions syndrome 6
RS143687204 HARS2 Health Risk Pathogenic/Likely pathogenic —
RS1436874013 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS143687498 BMP4 Health Risk Conflicting classifications of pathogenicity Microphthalmia with brain and digit anomalies, Orofacial cleft 11
RS143689372 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS1436895387 CCNO Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 29
RS143690368 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1436928058 DCHS1 Health Risk Pathogenic —
RS1436928164 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1436930576 PLOD2 Health Risk Pathogenic/Likely pathogenic Bruck syndrome 2, Bruck syndrome 2
RS1436932284 ODAD2 Health Risk Pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS143693526 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS143693642 UGT2B17 Health Risk Conflicting classifications of pathogenicity —
RS1436937190 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS143694260 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS143694311 FAT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1436944837 COL27A1 Health Risk Likely pathogenic —
RS1436956225 SKIC3 Health Risk Pathogenic —
RS1436960118 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1436960562 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS143696500 LYST Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, LYST-related disorder
RS143696592 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS143697410 LHCGR Health Risk Conflicting classifications of pathogenicity —
RS1436976326 TRMU Health Risk Pathogenic/Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS143697828 SOX9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Camptomelic dysplasia
RS143697995 MRPL44 Health Risk Pathogenic/Likely pathogenic Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency, Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
RS143699328 HSD3B7 Health Risk Conflicting classifications of pathogenicity —
RS1436996181 SCUBE3 Health Risk Conflicting classifications of pathogenicity Abnormality of the dentition, Abnormal facial shape
RS143700608 CAMTA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143702010 OPA3 Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS1437021651 CRX Health Risk Likely pathogenic Cone-rod dystrophy, Leber congenital amaurosis 7
RS1437025228 ABHD12 Health Risk Likely pathogenic —
RS143702799 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS1437033667 MECP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Severe neonatal-onset encephalopathy with microcephaly
RS143703574 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS143704621 GAN Health Risk Conflicting classifications of pathogenicity Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS1437050890 NEU1 Health Risk Likely pathogenic —
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