SNP Directory

400,964 genetic variants in our database.

Clear
All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS890665991 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS890667586 SBF2 Health Risk Pathogenic Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
RS890670494 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS890681861 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS890755179 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS890755853 POLR3A Health Risk Pathogenic/Likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome, Leukodystrophy
RS890787072 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS890810298 LIFR Health Risk Conflicting classifications of pathogenicity Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome
RS890822485 IFT74 Health Risk Pathogenic —
RS890826299 NBAS Health Risk Likely pathogenic —
RS890845570 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS890862536 TG Health Risk Pathogenic —
RS890870104 MANBA Health Risk Pathogenic/Likely pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS890871342 SLC52A3 Health Risk Pathogenic Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases
RS890884615 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS890906368 DRC2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 27, Inborn genetic diseases
RS890921874 SGCA Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS890923836 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS890926408 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS890951533 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS890981545 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS890995574 HMGCL Health Risk Pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS890999119 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Hematuria
RS891023397 CDK13 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS891030696 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS891035934 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS891042971 GAMT Health Risk Likely pathogenic Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
RS891068548 ATRX Health Risk Likely pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS891107196 TYMP Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS891111781 GLRX5 Health Risk Pathogenic Sideroblastic anemia 3, Sideroblastic anemia 3
RS891171561 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS891185586 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, 8 conditions
RS891244994 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS891246934 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS891261493 AHI1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Joubert syndrome
RS891262541 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS891298440 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS891318615 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS891322948 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS891323617 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS891347695 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS891361497 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS891364169 MN1 Health Risk Likely pathogenic CEBALID syndrome, CEBALID syndrome
RS891385943 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS891404433 ETV6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS891412360 ADAMTSL2 Health Risk Conflicting classifications of pathogenicity Geleophysic dysplasia 1, Geleophysic dysplasia 1
RS891420901 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS891489163 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS891516151 FITM2 Health Risk Likely pathogenic Siddiqi syndrome, Siddiqi syndrome
RS891533398 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS891579143 ABCA3 Health Risk Likely pathogenic Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS891583660 OTOF Health Risk Pathogenic —
RS891629905 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS891651799 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS891664323 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS891690526 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS891693382 CPLANE1 Health Risk Pathogenic/Likely pathogenic CPLANE1-related disorder, CPLANE1-related disorder
RS891749853 CYP7B1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS891751726 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS891776856 MCM3AP Health Risk Pathogenic —
RS891787440 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS891831110 RIPK4 Health Risk Likely pathogenic Bartsocas-Papas syndrome 1, Bartsocas-Papas syndrome 1
RS891844407 HARS1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3B, Usher syndrome type 3B
RS891854419 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Benign familial hematuria
RS891894351 GRIN2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS891954464 HADHB Health Risk Conflicting classifications of pathogenicity Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS891972892 RNASEH2B Health Risk Conflicting classifications of pathogenicity Global developmental delay, Aicardi-Goutieres syndrome 2
RS891986217 RFT1 Health Risk Conflicting classifications of pathogenicity RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
RS891991167 GALNT3 Health Risk Likely pathogenic Tumoral calcinosis, hyperphosphatemic
RS892043822 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS892080402 TNR Health Risk Likely pathogenic Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus, Neurodevelopmental disorder
RS892121336 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS892129065 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS892133012 DYSF Health Risk Pathogenic Miyoshi muscular dystrophy 1, DYSF-related disorder
RS892141220 TYMP Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS892173376 ARID1A Health Risk Conflicting classifications of pathogenicity —
RS892203135 SLC1A2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 41
RS892204813 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS892216772 JAK2 Health Risk Conflicting classifications of pathogenicity Thrombocythemia 3, Thrombocythemia 3
RS892227579 GALNT12 Health Risk Conflicting classifications of pathogenicity —
RS892274119 DDX3X Health Risk Conflicting classifications of pathogenicity DDX3X-related disorder, Inborn genetic diseases
RS892275570 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS892282118 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS892295785 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS892360041 FIG4 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS892374338 SLC25A46 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary motor and sensory
RS892387294 GLUD1 Health Risk Conflicting classifications of pathogenicity Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome
RS892397726 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease
RS892424035 L2HGDH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, L-2-hydroxyglutaric aciduria
RS892459274 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS892468166 VRK1 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS892478752 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS892567748 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS892572733 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS892726365 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS892742196 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS892779197 MVK Health Risk Conflicting classifications of pathogenicity Porokeratosis 3, disseminated superficial actinic type
RS892830346 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS892838669 WNT1 Health Risk Pathogenic —
RS892909504 SLCO2A1 Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
« Prev 1 ... 3957 3958 3959 3960 3961 3962 3963 ... 4010 Next »

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

Get Started Free →