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
RS77316810 RET Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia
RS773168610 SPTA1 Health Risk Likely pathogenic Abnormality of blood and blood-forming tissues, Abnormality of blood and blood-forming tissues
RS773168949 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773169005 LMNA Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS773169052 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS773171352 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS773171451 KCNQ2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 7
RS773171737 TBC1D32 Health Risk Pathogenic —
RS773172058 DAG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS773172347 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS773173317 OSGEP Health Risk Pathogenic/Likely pathogenic Galloway-Mowat syndrome 3, Nephrotic syndrome
RS773174603 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS773175563 CNTN2 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial adult myoclonic
RS773176095 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS773176120 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS773177076 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS773177128 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FLNB-related disorder
RS773178712 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Carcinoma of colon
RS773180704 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS773182375 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS773182634 ACY1 Health Risk Likely pathogenic ACY1-related disorder, ACY1-related disorder
RS773185026 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS773185855 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disorder
RS773187380 CCM2 Health Risk Likely pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS773187713 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS773188120 PLEKHG5 Health Risk Pathogenic/Likely pathogenic Neuronopathy, distal hereditary motor
RS773188476 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, ANKRD11-related disorder
RS773188939 SON Health Risk Conflicting classifications of pathogenicity ZTTK syndrome, ZTTK syndrome
RS773192157 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS773192977 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS773193199 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms
RS773193391 MYO18B Health Risk Pathogenic Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS773193491 PDZD7 Health Risk Pathogenic Hearing loss, autosomal recessive 57
RS773193617 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS773194811 PLOD3 Health Risk Pathogenic —
RS773194884 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS773194976 RAG1 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency due to partial RAG1 deficiency, Severe combined immunodeficiency
RS773196238 SLC16A1 Health Risk Conflicting classifications of pathogenicity Exercise-induced hyperinsulinism, Exercise-induced hyperinsulinism
RS773197293 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder
RS773197802 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS773198648 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS773200122 AIFM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency
RS773200558 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS773200756 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Myofibrillar myopathy 3
RS773200867 TTN Health Risk Likely pathogenic Tip-toe gait, Tip-toe gait
RS773200956 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS773201535 PRCD Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 36
RS773201570 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, 6 conditions
RS773201854 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS773202451 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS773204216 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS773204331 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS773204705 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS773204795 TECRL Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 3, Cardiovascular phenotype
RS773205979 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, TCOF1-related disorder
RS773206482 TMEM67 Health Risk Pathogenic —
RS773207833 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS773208371 DNAH5 Health Risk Pathogenic/Likely pathogenic Kartagener syndrome, Primary ciliary dyskinesia 3
RS773209126 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS773209564 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS773211579 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS773211804 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS77321207 GBA1 Health Risk Likely pathogenic —
RS773212667 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS773213959 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS773214680 F10 Health Risk Likely pathogenic Hereditary factor X deficiency disease, Hereditary factor X deficiency disease
RS773215003 CACNB2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype
RS773215035 CANT1 Health Risk Pathogenic/Likely pathogenic Desbuquois dysplasia 1, Desbuquois dysplasia 1
RS773215639 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS773216142 CXCR4 Health Risk Conflicting classifications of pathogenicity Warts, hypogammaglobulinemia
RS773218149 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS773220689 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS773221585 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS773222881 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS773223403 ABCA3 Health Risk Likely pathogenic Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS773223671 BARD1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS773224617 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS773225207 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS773226008 MSH6 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS773226219 ADA2 Health Risk Likely pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS773227041 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS773227499 MYH9 Health Risk Conflicting classifications of pathogenicity —
RS773229361 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS773229775 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS773229933 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS773229937 LAMC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773230722 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS773231689 USH1G Health Risk Pathogenic Usher syndrome, Usher syndrome
RS773232259 FRAS1 Health Risk Likely pathogenic Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
RS773235871 CTNNA1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS773237428 CASQ2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS773238252 GALNT3 Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS773238363 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS773239926 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS773240314 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Inborn genetic diseases
RS773240729 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS773241386 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS773241951 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS773242093 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS773242930 IGHMBP2 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
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