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
RS368512412 DUOX2 Health Risk Pathogenic/Likely pathogenic DUOX2-related disorder, Thyroid dyshormonogenesis 6
RS368512512 SBF1 Health Risk Conflicting classifications of pathogenicity —
RS368512832 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
RS368513591 CNGA3 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
RS368514215 SEPSECS Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D
RS368514303 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B
RS368514311 CEP19 Health Risk Conflicting classifications of pathogenicity —
RS368515443 RREB1 Health Risk Conflicting classifications of pathogenicity —
RS368516200 NBAS Health Risk Pathogenic/Likely pathogenic Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Infantile liver failure syndrome 2
RS368516281 DRP2 Health Risk Conflicting classifications of pathogenicity —
RS368516768 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS368516826 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS368516973 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS368517882 ZSWIM7 Health Risk Likely pathogenic Non-obstructive azoospermia, Spermatogenic failure 71
RS368517998 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS368518323 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, DIS3L2-related disorder
RS368518664 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS368520468 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS368521316 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS368521553 TF Health Risk Conflicting classifications of pathogenicity Atransferrinemia, Atransferrinemia
RS368522117 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS368522976 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS368523917 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368523939 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS368524364 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome
RS368525111 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS368525533 CEP41 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 15, Familial Autism Spectrum Disorder
RS368525666 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS368526254 ITGB4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368526624 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS368527435 FAAH2 Health Risk Conflicting classifications of pathogenicity —
RS368527534 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS368527797 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS368528034 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, USH1C-related disorder
RS368528885 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS368528967 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368529527 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis
RS368529673 COL7A1 Health Risk Pathogenic/Likely pathogenic 7 conditions, 7 conditions
RS368530092 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS368531523 POMGNT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS368531555 TTN Health Risk Conflicting classifications of pathogenicity —
RS368532017 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS368535131 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 1
RS368536894 TRANK1 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS368536975 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS368537434 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS368537909 MIPEP Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS368538240 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS368538357 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS368538884 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS368539088 CUL7 Health Risk Conflicting classifications of pathogenicity —
RS368541093 MECR Health Risk Pathogenic —
RS368541637 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia
RS368542152 PHYH Health Risk Conflicting classifications of pathogenicity Phytanic acid storage disease, PHYH-related disorder
RS368542446 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS368542665 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Elliptocytosis 2
RS368542816 LMNA Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS368543375 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS368543835 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS368543869 WAC Health Risk Pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS368544526 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Hereditary spherocytosis type 3
RS368545054 SEC23B Health Risk Likely pathogenic Congenital dyserythropoietic anemia, type II
RS368545090 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Lung cancer
RS368545254 CPLANE1 Health Risk Likely pathogenic —
RS368545529 MAN1B1 Health Risk Conflicting classifications of pathogenicity MAN1B1-related disorder, Inborn genetic diseases
RS368545607 ANKRD26 Health Risk Conflicting classifications of pathogenicity —
RS368545738 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS368546281 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS368546838 VARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368547042 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS368547122 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS368547224 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS368547938 DNAJB2 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS368548209 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS368548294 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, ABCA4-related disorder
RS368550010 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B
RS368550097 ERCC5 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS368550200 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS368550655 SCN5A Health Risk Conflicting classifications of pathogenicity SUDDEN INFANT DEATH SYNDROME, Brugada syndrome 1
RS368551584 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS368551668 PSMB8 Health Risk Conflicting classifications of pathogenicity Proteasome-associated autoinflammatory syndrome 1, Inborn genetic diseases
RS368553582 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Inborn genetic diseases
RS368554118 EP300 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS368554884 SLC3A1 Health Risk Likely pathogenic Cystine urolithiasis, Cystine urolithiasis
RS368555424 CFI Health Risk Pathogenic/Likely pathogenic Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with I factor anomaly
RS368557271 FBN3 Health Risk Conflicting classifications of pathogenicity —
RS368557552 HADHA Health Risk Conflicting classifications of pathogenicity Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS368558129 RNF13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 73
RS368559257 STAR Health Risk Conflicting classifications of pathogenicity Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS368559547 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS368560418 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Zellweger spectrum disorders
RS368560744 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS368560982 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Inborn genetic diseases
RS368561027 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS368561050 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS368561457 CACNA1G Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 42, Spinocerebellar ataxia type 42
RS368561764 TXNRD2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS368562025 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS368562997 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS368564115 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
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