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
RS560395563 ALPK3 Health Risk Conflicting classifications of pathogenicity —
RS560398270 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS56039839 TTBK2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 11, Spinocerebellar ataxia type 11
RS56040810 RAPSN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS56041034 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS560411441 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS560414449 PHKG2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXc, Glycogen storage disease IXc
RS560416690 USH1C Health Risk Conflicting classifications of pathogenicity —
RS560420109 PCSK1 Health Risk Conflicting classifications of pathogenicity Obesity due to prohormone convertase I deficiency, PCSK1-related disorder
RS560422553 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS56043301 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS56044404 MUSK Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS560445624 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS56044609 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS560450437 FUS Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 6, Tremor
RS560450489 FAT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS560454433 PAX2 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 7, Renal coloboma syndrome
RS56046250 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS560462942 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS56046320 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS560465803 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS560471003 PPT1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 1, Inborn genetic diseases
RS56047213 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS560475969 AFG2A Health Risk Conflicting classifications of pathogenicity Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, SPATA5-related disorder
RS560476223 SCN5A Health Risk Conflicting classifications of pathogenicity Progressive familial heart block, type 1A
RS560480810 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS560482429 POLG2 Health Risk Conflicting classifications of pathogenicity —
RS560482778 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS56048322 PTPN22 Health Risk Conflicting classifications of pathogenicity PTPN22-related disorder, Uterine corpus endometrial carcinoma
RS560491477 TUBA1A Health Risk Conflicting classifications of pathogenicity Lissencephaly due to TUBA1A mutation, TUBA1A-related disorder
RS560507685 CCDC88C Health Risk Conflicting classifications of pathogenicity —
RS560510434 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Inborn genetic diseases
RS56051266 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS560520169 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS560522093 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS56052239 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS560525099 RAPSN Health Risk Pathogenic/Likely pathogenic RAPSN-related disorder, Fetal akinesia deformation sequence 2
RS560527787 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Inborn genetic diseases
RS560530815 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS560531338 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS560537668 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS56054233 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS56054534 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Ovarian serous cystadenocarcinoma
RS560557634 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS56055939 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS560565848 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS560574772 ITGB4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS560575383 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS560588447 KLKB1 Health Risk Conflicting classifications of pathogenicity Inherited prekallikrein deficiency, Prekallikrein deficiency
RS56059137 WHRN Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31
RS560592940 COL4A3 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Autosomal dominant Alport syndrome
RS560595238 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS560596101 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS56059682 CSF1R Health Risk Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids, Inborn genetic diseases
RS560597983 NPHP4 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 4, Nephronophthisis 4
RS56059937 UGT1A1 Health Risk Pathogenic/Likely pathogenic Gilbert syndrome, Crigler-Najjar syndrome type 1
RS560599895 MYO18B Health Risk Conflicting classifications of pathogenicity Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS560600678 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS560609581 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS560614098 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
RS560614661 KIF23 Health Risk Conflicting classifications of pathogenicity —
RS56061641 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS560631745 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS560640452 SGCG Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS560648873 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Familial infantile myasthenia
RS560649393 FZD4 Health Risk Conflicting classifications of pathogenicity —
RS560691658 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS560698644 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS560702162 RIMS1 Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS560702757 TUBB1 Health Risk Pathogenic Congenital hypothyroidism, Congenital hypothyroidism
RS560703292 MALT1 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to MALT1 deficiency, Inborn genetic diseases
RS56070345 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS560704715 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS560710521 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS56072130 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS560732073 FGA Health Risk Conflicting classifications of pathogenicity Congenital afibrinogenemia, Familial visceral amyloidosis
RS560737688 CEP120 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases
RS560739585 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS560752299 NOTCH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS56075338 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS560759460 RARS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS560760228 CDH23 Health Risk Conflicting classifications of pathogenicity CDH23-related disorder, CDH23-related disorder
RS56076152 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS560763455 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS56077602 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Connective tissue disorder
RS560781973 ACAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS560785131 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial prostate cancer
RS560785308 NIPBL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cornelia de Lange syndrome 1
RS56080682 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS560808156 MITF Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS56080897 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS560813860 LRP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS560818343 TBXAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS56082035 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS560822587 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, Inborn genetic diseases
RS560825505 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
RS560826820 HSD3B7 Health Risk Pathogenic/Likely pathogenic Congenital bile acid synthesis defect 1, Congenital bile acid synthesis defect 1
RS560831644 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS560838174 MECOM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS560839317 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Cardiovascular phenotype
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