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
RS1180673589 CD3D Health Risk Pathogenic Immunodeficiency 19, Immunodeficiency 19
RS1180673603 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1180676335 HPS3 Health Risk Pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS1180694694 TECTA Health Risk Conflicting classifications of pathogenicity —
RS1180704409 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS1180715983 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1180748005 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1180759765 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1180780309 TMIE Health Risk Pathogenic —
RS1180781773 PDGFB Health Risk Conflicting classifications of pathogenicity Basal ganglia calcification, idiopathic
RS118079537 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Myopathy
RS1180804356 SMARCA4 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 16
RS1180813038 TSFM Health Risk Conflicting classifications of pathogenicity Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS118083923 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS1180840764 NPR2 Health Risk Pathogenic Tall stature-scoliosis-macrodactyly of the great toes syndrome, Acromesomelic dysplasia 1
RS1180861300 HIBCH Health Risk Conflicting classifications of pathogenicity 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS1180874041 RBM10 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS118088187 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Hereditary spherocytosis type 3
RS1180888940 ADAR Health Risk Pathogenic Aicardi-Goutieres syndrome 6, Cerebral calcification
RS1180908312 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS118091316 CYP4F22 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 5, CYP4F22-related disorder
RS1180926625 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS118092784 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1180933570 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS1180937573 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS118093942 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1180939705 TRIM32 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1180941945 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS1180948133 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS118095726 IFT27 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, IFT27-related disorder
RS1180962073 TTI2 Health Risk Pathogenic Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome, Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
RS118097056 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS1180978840 TOR1AIP1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
RS1180979609 TRIOBP Health Risk Pathogenic/Likely pathogenic —
RS1180980391 DNMT3A Health Risk Conflicting classifications of pathogenicity Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS1180981385 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS1180986183 COLQ Health Risk Likely pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS1180993602 CBS Health Risk Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS1180995978 GNPTG Health Risk Likely pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS1180998665 MPZ Health Risk Likely pathogenic Charcot-Marie-Tooth disease, type I
RS1181016921 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS1181017104 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1181021204 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS1181051479 NF2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS118106526 PFKL Health Risk Conflicting classifications of pathogenicity PFKL-related disorder, PFKL-related disorder
RS1181067492 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS118106981 NDUFA10 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS1181074160 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1181083611 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Congenital myopathy 22A
RS1181086213 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1181095991 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1181139153 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Breast-ovarian cancer
RS1181142850 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1181152684 PKP2 Health Risk Pathogenic Sudden unexplained death, Sudden unexplained death
RS1181159671 AHI1 Health Risk Pathogenic Joubert syndrome and related disorders, Joubert syndrome
RS1181161932 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS1181168635 PKD1 Health Risk Likely pathogenic PKD1-related disorder, Polycystic kidney disease
RS1181170417 TOP3A Health Risk Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
RS1181178656 KIAA1549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS118121148 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
RS1181216326 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS1181222222 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1181224255 GAD1 Health Risk Pathogenic Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Developmental and epileptic encephalopathy 89
RS1181252259 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS118126378 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1181271457 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS118128831 STIM1 Health Risk Conflicting classifications of pathogenicity Stormorken syndrome, Combined immunodeficiency due to STIM1 deficiency
RS1181336139 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1181337385 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1181345434 USH2A Health Risk Pathogenic USH2A-related disorder, USH2A-related disorder
RS1181350360 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1181351466 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1181354869 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS118136428 PDHX Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E3-binding protein deficiency, PDHX-related disorder
RS1181378221 EDAR Health Risk Likely pathogenic Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type
RS1181419614 SI Health Risk Likely pathogenic —
RS1181434652 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2O
RS1181436417 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS1181445340 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS1181453325 RPGRIP1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS118146260 DNAH10 Health Risk Conflicting classifications of pathogenicity —
RS118147046 BRWD1 Health Risk Conflicting classifications of pathogenicity BRWD1-related disorder, BRWD1-related disorder
RS1181477970 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS118147866 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS1181487342 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS1181500076 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS1181501831 ROBO1 Health Risk Pathogenic Rhabdomyosarcoma, Rhabdomyosarcoma
RS1181505507 HBA1 Health Risk Pathogenic/Likely pathogenic alpha Thalassemia, Erythrocytosis
RS1181511105 TG Health Risk Pathogenic —
RS1181528755 FKRP Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS1181555052 THPO Health Risk Likely pathogenic Amegakaryocytic thrombocytopenia, congenital
RS1181572912 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS118158347 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS1181586555 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS1181595292 LRBA Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1181604094 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS118161093 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1181612302 UFC1 Health Risk Pathogenic Neurodevelopmental disorder with spasticity and poor growth, Neurodevelopmental disorder with spasticity and poor growth
RS118161496 NUBPL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mitochondrial complex I deficiency
RS1181626947 GLRA1 Health Risk Likely pathogenic Hyperekplexia 1, Hyperekplexia 1
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