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
RS755898320 CHD2 Health Risk Conflicting classifications of pathogenicity Self-limited epilepsy with centrotemporal spikes, Developmental and epileptic encephalopathy 94
RS755899326 RAI1 Health Risk Conflicting classifications of pathogenicity Smith-Magenis syndrome, Inborn genetic diseases
RS755900253 FHL1 Health Risk Conflicting classifications of pathogenicity X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype
RS755902927 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS755903123 TCTN3 Health Risk Pathogenic/Likely pathogenic Orofacial-digital syndrome IV, Joubert syndrome 18
RS755904046 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS755904252 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS755905226 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS755905249 TAF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755906427 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS755907131 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS755908120 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS755908212 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, Inborn genetic diseases
RS755908331 USH1G Health Risk Likely pathogenic —
RS755908353 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS755908721 GGCX Health Risk Pathogenic —
RS755909523 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS755909719 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS755910254 CDH3 Health Risk Pathogenic —
RS755911247 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS755911617 CCDC116 Health Risk Conflicting classifications of pathogenicity —
RS755914063 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS755914340 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS755915465 SCN4B Health Risk Conflicting classifications of pathogenicity Long QT syndrome 10, Cardiovascular phenotype
RS755916316 WNT5A Health Risk Conflicting classifications of pathogenicity Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1
RS755916513 TRPV6 Health Risk Likely pathogenic Hyperparathyroidism, transient neonatal
RS755918582 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS755919767 TREX1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RS755919784 SPTLC3 Health Risk Likely pathogenic Peripheral neuropathy, Sensory neuropathy
RS755920849 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS755922032 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS755922289 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS755923652 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS755923873 SLC17A5 Health Risk Pathogenic/Likely pathogenic Salla disease, SLC17A5-related disorder
RS755924637 KRT10 Health Risk Conflicting classifications of pathogenicity —
RS755924944 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS755924969 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome
RS755925068 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS755925428 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755926095 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS755926439 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS755926856 CFH Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 4, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
RS755927061 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Hematuria
RS755927504 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS755928019 SAR1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS755928079 DSP Health Risk Conflicting classifications of pathogenicity Woolly hair-skin fragility syndrome, Lethal acantholytic epidermolysis bullosa
RS755928543 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755928939 EPG5 Health Risk Likely pathogenic Vici syndrome, Inborn genetic diseases
RS755929725 PRDM5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS755931396 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS755931555 SDCCAG8 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS755931648 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS755933716 ALG6 Health Risk Pathogenic/Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS755933881 COQ8A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Mitochondrial disease
RS755934816 PKLR Health Risk Conflicting classifications of pathogenicity —
RS755934966 MYO7A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS755935124 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS755935365 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS755935386 KIF1C Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Inborn genetic diseases
RS755936301 RARS2 Health Risk Pathogenic/Likely pathogenic Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 6
RS755937050 TBX1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, DiGeorge syndrome
RS755937467 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS755938406 FANCE Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS755938967 IQCE Health Risk Pathogenic Polydactyly, postaxial
RS755939422 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kabuki syndrome 1
RS755939601 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS755941834 RAG2 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS755941916 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS755943193 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS755943322 TCF20 Health Risk Conflicting classifications of pathogenicity —
RS755944287 CAD Health Risk Pathogenic —
RS755944454 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS755944755 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS755945291 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2A (Zellweger), Peroxisome biogenesis disorder 2B
RS755946240 SMARCA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755946598 PLPBP Health Risk Pathogenic/Likely pathogenic Epilepsy, early-onset
RS755946631 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS755947203 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS755947485 PEPD Health Risk Pathogenic —
RS755947763 CYP11B2 Health Risk Likely pathogenic —
RS755947942 EYS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 25
RS755948833 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, TG-related disorder
RS755948940 MVD Health Risk Pathogenic Porokeratosis 7, multiple types
RS755949821 PRKG2 Health Risk Pathogenic —
RS755949982 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS755950154 PEX2 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 5A (Zellweger)
RS755950225 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS755950355 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS755950417 SRRM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755951235 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS755952006 CBS Health Risk Pathogenic/Likely pathogenic Classic homocystinuria, Homocystinuria
RS755952440 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CREBBP-related disorder
RS755954353 MTO1 Health Risk Pathogenic/Likely pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Inborn genetic diseases
RS755954869 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, APC-related disorder
RS755955593 DOCK8 Health Risk Pathogenic —
RS755956494 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS755956613 SLC45A2 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS755958987 SPATA7 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 3
RS755959303 FLCN Health Risk Likely pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS755959403 CTSC Health Risk Conflicting classifications of pathogenicity Haim-Munk syndrome, Papillon-Lefèvre syndrome
« Prev 1 ... 3291 3292 3293 3294 3295 3296 3297 ... 4509 Next »

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

Get Started Free →