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
RS1439365177 KASH5 Health Risk Pathogenic Spermatogenic failure 88, Spermatogenic failure 88
RS143936557 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, FANCD2-related disorder
RS1439380661 ESCO2 Health Risk Likely pathogenic —
RS143938822 POLE Health Risk Pathogenic —
RS143938897 TWNK Health Risk Conflicting classifications of pathogenicity Thymoma, Thymoma
RS143938936 NAGLU Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS143939123 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Inborn genetic diseases
RS143939165 NOTCH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143939430 OTOF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 9, Hearing loss
RS143939609 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS1439403317 RAPSN Health Risk Pathogenic Fetal akinesia deformation sequence 2, Fetal akinesia deformation sequence 2
RS1439403341 H3-3A Health Risk Likely pathogenic —
RS143941725 TSPEAR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TSPEAR-related disorder
RS143942248 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS143942705 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS1439433665 MTRFR Health Risk Likely pathogenic —
RS143943543 NCKAP1L Health Risk Conflicting classifications of pathogenicity Immunodeficiency 72 with autoinflammation, Cervical cancer
RS1439435536 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS143943560 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143944436 CUBN Health Risk Pathogenic/Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS1439452693 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1439464815 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1439465660 POLR3A Health Risk Pathogenic —
RS143946794 DUSP6 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 19 with or without anosmia, Hypogonadotropic hypogonadism 19 with or without anosmia
RS143946953 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS1439469699 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1439470206 LRAT Health Risk Pathogenic —
RS143947056 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS1439475292 CARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27, Combined oxidative phosphorylation defect type 27
RS143947629 HR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1439477100 PRKD1 Health Risk Likely pathogenic Congenital heart defects and ectodermal dysplasia, Congenital heart defects and ectodermal dysplasia
RS143947747 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 6
RS143947828 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS143948239 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS143948240 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS143948837 ACTA1 Health Risk Conflicting classifications of pathogenicity Actin accumulation myopathy, Familial restrictive cardiomyopathy
RS143948954 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, Renal hypodysplasia/aplasia 1
RS143949083 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS1439490873 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS143950084 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS143950158 SPTB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143951267 RPS26 Health Risk Pathogenic Diamond-Blackfan anemia 10, Diamond-Blackfan anemia
RS143951764 CSMD1 Health Risk Conflicting classifications of pathogenicity —
RS143951897 CTR9 Health Risk Conflicting classifications of pathogenicity CTR9-related disorder, CTR9-related disorder
RS143952141 CHRM2 Health Risk Conflicting classifications of pathogenicity —
RS143952512 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS143952576 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS143953116 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS1439533354 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1439541639 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1439544901 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS143954665 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 13, Retinitis pigmentosa 13
RS143954739 ATP13A3 Health Risk Conflicting classifications of pathogenicity —
RS143954787 TMEM70 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS143954978 COMP Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS1439555171 TUBGCP4 Health Risk Pathogenic —
RS143955920 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS1439561211 MKS1 Health Risk Likely pathogenic Meckel syndrome, type 1
RS143956557 FIG4 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS143956614 SQSTM1 Health Risk Conflicting classifications of pathogenicity Paget disease of bone 2, early-onset
RS143957561 AFG2A Health Risk Conflicting classifications of pathogenicity Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, AFG2A-related disorder
RS143957574 POMK Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS1439576531 PRPF31 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS143957662 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS143957857 TUBGCP6 Health Risk Pathogenic —
RS143957922 PHYH Health Risk Conflicting classifications of pathogenicity Phytanic acid storage disease, Phytanic acid storage disease
RS1439582451 MFSD8 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS143959492 IHH Health Risk Conflicting classifications of pathogenicity IHH-related disorder, IHH-related disorder
RS143959504 FARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14, Inborn genetic diseases
RS143960270 NPC2 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C2
RS143960329 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS143960528 AKR1D1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, AKR1D1-related disorder
RS143960563 PGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 42
RS143961330 SLC25A20 Health Risk Conflicting classifications of pathogenicity Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS143961472 GCH1 Health Risk Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency, Dystonia 5
RS143961484 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1439617035 ACAT1 Health Risk Conflicting classifications of pathogenicity Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS143962150 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1439623464 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS143962510 CCM2 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation 2, Inborn genetic diseases
RS1439626978 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1439633596 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS143963391 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS9-related disorder
RS143964295 COASY Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 6, COASY-related disorder
RS143965148 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS143965711 COL11A2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 33, Autosomal dominant nonsyndromic hearing loss 33
RS143966199 ADD3 Health Risk Conflicting classifications of pathogenicity —
RS1439667525 OTOGL Health Risk Pathogenic —
RS143966918 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot
RS143967107 SLC6A5 Health Risk Conflicting classifications of pathogenicity Hyperekplexia 3, Inborn genetic diseases
RS1439688451 GRIN2A Health Risk Pathogenic Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes
RS143969029 RAG1 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive
RS143969080 ATP1A2 Health Risk Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 1, Migraine
RS143971158 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1439712140 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS143971943 CSGALNACT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143972053 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, Hereditary spastic paraplegia
RS143972348 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS143972531 PEX13 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 11A (Zellweger), PEX13-related disorder
RS143972828 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
« Prev 1 ... 587 588 589 590 591 592 593 ... 4509 Next »

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

Get Started Free →