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
RS758181221 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS758181560 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS758181932 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS758181982 NDUFAF6 Health Risk Likely pathogenic —
RS758182356 NF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS758182607 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS758182700 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS758182752 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS758182867 WDR11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758182990 CUL3 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2E, Pseudohypoaldosteronism type 2E
RS758182997 RAB33B Health Risk Conflicting classifications of pathogenicity Smith-McCort dysplasia 2, Smith-McCort dysplasia 2
RS758183257 AARS1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 29
RS758183474 TYRP1 Health Risk Likely pathogenic —
RS758183918 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS758184848 EPG5 Health Risk Pathogenic/Likely pathogenic Vici syndrome, Vici syndrome
RS758186123 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS758186176 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS758187673 CASP10 Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A
RS758188096 KLHL40 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS758190171 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS758190824 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS758190979 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS758191113 NEFL Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease
RS758191157 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS758192469 GRIP1 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 3, Fraser syndrome 3
RS758193274 TTC19 Health Risk Pathogenic Mitochondrial disease, Mitochondrial disease
RS758193337 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS758193918 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS758194213 KCNQ1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiac arrhythmia
RS758194285 F9 Health Risk Pathogenic Thrombophilia, X-linked
RS758194385 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS758194640 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS758194735 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758194998 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS758195453 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Cardiovascular phenotype
RS758196929 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS758196959 PIGB Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 80
RS758197769 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS758199406 KARS1 Health Risk Pathogenic —
RS758199462 PCNT Health Risk Pathogenic —
RS758199486 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Inborn genetic diseases
RS75820036 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS758200451 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS758201217 SLC29A3 Health Risk Pathogenic/Likely pathogenic H syndrome, H syndrome
RS758203051 PEX19 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 12A (Zellweger), Peroxisome biogenesis disorder 12A (Zellweger)
RS758206023 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS758206522 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS758206608 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
RS758206740 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS758207378 CTNNB1 Health Risk Pathogenic CTNNB1-related disorder, CTNNB1-related disorder
RS75820839 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS758210285 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related myopathy
RS758210528 CARMIL2 Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency due to CARMIL2 deficiency, Severe combined immunodeficiency due to CARMIL2 deficiency
RS758210984 NCF4 Health Risk Pathogenic Granulomatous disease, chronic
RS758211855 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS758211858 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS758212945 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS758213105 SGCE Health Risk Pathogenic/Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS758214289 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS758216033 APOA5 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS758216356 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS758216916 HGSNAT Health Risk Pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis
RS758217005 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Retinal dystrophy
RS758217149 CPLANE1 Health Risk Pathogenic —
RS758217572 CARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27, Combined oxidative phosphorylation defect type 27
RS758217814 ZMIZ1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758218388 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS758219423 ALDH18A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cutis laxa
RS758219588 NBPF4 Health Risk Conflicting classifications of pathogenicity —
RS758219775 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS758220780 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS758221597 UMOD Health Risk Conflicting classifications of pathogenicity Chronic kidney disease, Familial juvenile hyperuricemic nephropathy type 1
RS75822236 GBA1 Health Risk Pathogenic/Likely pathogenic Gaucher disease type I, Gaucher disease
RS758223206 LAMA1 Health Risk Pathogenic/Likely pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS758223679 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS758223998 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS758224118 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS758224214 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS758224894 KIZ Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS758225108 PMS2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms
RS758226104 PTPRJ Health Risk Pathogenic Thrombocytopenia 10, Thrombocytopenia 10
RS758226404 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS758226677 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
RS758226884 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS758227044 TRAPPC11 Health Risk Likely pathogenic —
RS758228613 TNRC6B Health Risk Pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS758228667 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS758229027 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Holoprosencephaly 7
RS758229208 NUP54 Health Risk Pathogenic Dystonia 37, early-onset
RS758230618 SCN10A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS758230758 EXOSC3 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B, Inborn genetic diseases
RS758230960 DNAAF2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS75823099 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS758231286 ABCC8 Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus
RS758231839 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS758232075 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS758232331 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS758233186 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS758233969 NBAS Health Risk Conflicting classifications of pathogenicity NBAS-related disorder, NBAS-related disorder
RS758234545 ATR Health Risk Pathogenic Inborn genetic diseases, Seckel syndrome 1
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