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
RS757424322 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS757424379 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS757425728 SPTB Health Risk Pathogenic/Likely pathogenic Elliptocytosis 3, Hereditary spherocytosis type 2
RS757426469 NDUFS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757427533 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Papillary renal cell carcinoma type 1
RS757428273 PCARE Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS757428388 ADCY10 Health Risk Pathogenic —
RS757428415 PIEZO1 Health Risk Pathogenic —
RS757428597 CBS Health Risk Pathogenic/Likely pathogenic Classic homocystinuria, Homocystinuria
RS757429317 TTC8 Health Risk Likely pathogenic Retinitis pigmentosa 51, Retinitis pigmentosa 51
RS757430199 PTCH1 Health Risk Conflicting classifications of pathogenicity Craniopharyngioma, Gorlin syndrome
RS757430423 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS757430776 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS757431407 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, MOCS1-related disorder
RS757432625 AUTS2 Health Risk Conflicting classifications of pathogenicity —
RS757433005 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS757434449 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS757434857 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, ACADM-related disorder
RS757435241 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS757439328 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS757439664 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Usher syndrome type 2A
RS757440752 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS757441073 PIGO Health Risk Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS757441871 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS757442072 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS757442230 SLC10A1 Health Risk Likely pathogenic SLC10A1-related disorder, SLC10A1-related disorder
RS757442319 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS757444247 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS757444887 KCNK4 Health Risk Conflicting classifications of pathogenicity —
RS757446033 HERC1 Health Risk Pathogenic Macrocephaly, dysmorphic facies
RS757446463 SELENON Health Risk Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS757448865 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS757449019 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS757449082 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Ehlers-Danlos syndrome
RS757449294 ARL2BP Health Risk Pathogenic —
RS757449444 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Inborn genetic diseases
RS757451467 TTN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Primary dilated cardiomyopathy
RS757451824 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS757452204 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS757453683 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation
RS757453900 COL4A1 Health Risk Conflicting classifications of pathogenicity Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS757454147 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Inborn genetic diseases
RS757454595 FUS Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 6, Tremor
RS757456211 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS757456261 CBL Health Risk Conflicting classifications of pathogenicity CBL-related disorder, RASopathy
RS757457793 TRIOBP Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS757457825 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS757458333 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS757458581 ARID1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 14
RS757458607 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS757458960 TIMP3 Health Risk Conflicting classifications of pathogenicity —
RS757460257 MYO7A Health Risk Conflicting classifications of pathogenicity Deafness, Hearing loss
RS757460628 DNMT1 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS757460662 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS757461439 NEDD4L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757461540 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS757463918 TNXB Health Risk Conflicting classifications of pathogenicity Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS757464167 RFX5 Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS757464411 CFI Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly
RS757464563 IFT172 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS757464897 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS757465924 RAB34 Health Risk Likely pathogenic Jeune thoracic dystrophy, Orofaciodigital syndrome 20
RS757466000 SEMA4A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cone-rod dystrophy 10
RS757467776 ALG8 Health Risk Conflicting classifications of pathogenicity ALG8 congenital disorder of glycosylation, ALG8 congenital disorder of glycosylation
RS757468756 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS757469488 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS75746974 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity Cutis laxa with osteodystrophy, ALG9 congenital disorder of glycosylation
RS757469887 CAPN3 Health Risk Likely pathogenic Muscular dystrophy, limb-girdle
RS757470639 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS757470958 CNGA3 Health Risk Pathogenic Retinal dystrophy, Achromatopsia 2
RS757471063 SLC24A1 Health Risk Pathogenic —
RS757471117 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS757471313 PRCD Health Risk Conflicting classifications of pathogenicity —
RS75747149 AXIN2 Health Risk Likely pathogenic Colorectal cancer, Colorectal cancer
RS757471501 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Cardiomyopathy
RS757471928 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS757473634 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS757473977 WNK2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS757475739 VPS13C Health Risk Likely pathogenic —
RS757475924 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS757477471 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS757478410 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS757478752 TREX1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RS757479184 APPL1 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 14, Maturity-onset diabetes of the young type 14
RS757479262 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS757479364 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Inborn genetic diseases
RS757480516 PDXK Health Risk Pathogenic Neuropathy, hereditary motor and sensory
RS757480645 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS757481015 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
RS757481230 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy
RS757481572 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, CTNNA1-related disorder
RS757481998 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS757482211 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS757482428 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 13
RS757482856 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS757482925 FLNC Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS757483045 LOC129992304;QDPR Health Risk Likely pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS757485456 GALNT12 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS757485757 TCTN2 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS757486099 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH11-related disorder
« Prev 1 ... 3316 3317 3318 3319 3320 3321 3322 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →