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
RS755711684 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS755713308 FLNB Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS755714246 ZP2 Health Risk Pathogenic Oocyte maturation defect 6, Oocyte maturation defect 6
RS755714285 TMEM240 Health Risk Conflicting classifications of pathogenicity —
RS755714542 CLCNKB Health Risk Pathogenic/Likely pathogenic Bartter disease type 3, Bartter disease type 4B
RS755714858 DNAI2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS755715459 SLC7A9 Health Risk Pathogenic Cystine urolithiasis, Cystinuria
RS755716405 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS755716475 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS755716827 MKKS Health Risk Pathogenic McKusick-Kaufman syndrome, Bardet-Biedl syndrome
RS755716911 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Heimler syndrome 2
RS755717157 STXBP2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 5
RS755717160 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS755717662 ATL3 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS755718337 FLAD1 Health Risk Pathogenic —
RS755719248 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS755721902 NUP160 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Osteopetrosis
RS755722952 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Lymphatic malformation 6
RS755723511 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS755724489 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS755724766 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS755724779 CTNNA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS755725531 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Retinal dystrophy
RS755725702 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS755726554 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS755726905 CACNA1H Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Idiopathic generalized epilepsy
RS755727938 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755728007 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Isolated focal cortical dysplasia type II
RS755728248 TYMP Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS755728923 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS755729832 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS755729966 CYP7B1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Congenital bile acid synthesis defect 3
RS755731113 COL11A2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia
RS755731385 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS755731853 KIZ Health Risk Pathogenic —
RS755733328 ABCA4 Health Risk Pathogenic Cone-rod dystrophy 3, Retinal dystrophy
RS755733512 CNGB3 Health Risk Likely pathogenic —
RS755734596 HGD Health Risk Pathogenic/Likely pathogenic Alkaptonuria, Clear cell carcinoma of kidney
RS755736687 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS755737064 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS755737169 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS755738894 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS755739341 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS755740633 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS755741122 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS755741181 COL13A1 Health Risk Conflicting classifications of pathogenicity —
RS755742518 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS755742775 SHOC1 Health Risk Pathogenic Spermatogenic failure 75, Spermatogenic failure 75
RS755743750 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS755744291 DNMT3A Health Risk Pathogenic Inborn genetic diseases, Tatton-Brown-Rahman overgrowth syndrome
RS755744719 AFG2A Health Risk Pathogenic/Likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS755745002 ARX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS755745806 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS755746417 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS755747010 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS755747435 ROBO4 Health Risk Likely pathogenic Ascending tubular aorta aneurysm, Bicuspid aortic valve
RS755747732 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS755748579 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS755749479 ASXL1 Health Risk Conflicting classifications of pathogenicity —
RS755749772 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS755749925 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS755750516 PIGO Health Risk Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS755750961 FRAS1 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS755751835 TXNRD2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary dilated cardiomyopathy
RS755751855 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS755752316 NPHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Finnish congenital nephrotic syndrome
RS755753053 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS755754433 COL6A3 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS755755175 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS755755790 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity CDK5RAP2-related disorder, CDK5RAP2-related disorder
RS755756363 AP4B1 Health Risk Pathogenic Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
RS755756538 UNC80 Health Risk Likely pathogenic —
RS755756797 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS755757866 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS755758018 NSD1 Health Risk Pathogenic/Likely pathogenic —
RS755758613 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome
RS755758948 SPEN Health Risk Pathogenic —
RS755760603 ERCC3 Health Risk Likely pathogenic Xeroderma pigmentosum group B, Trichothiodystrophy 2
RS755760721 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS755762601 ELP4 Health Risk Likely pathogenic Global developmental delay, Seizure
RS755762622 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS755762723 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Alstrom syndrome
RS755763002 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS755763110 OTOGL Health Risk Pathogenic —
RS755763965 JAGN1 Health Risk Likely pathogenic —
RS755764533 ERCC3 Health Risk Pathogenic Xeroderma pigmentosum group B, Xeroderma pigmentosum group B
RS755764751 FAM20C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Thymoma
RS755765955 UBE3A Health Risk Conflicting classifications of pathogenicity Angelman syndrome, Angelman syndrome
RS755765979 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa
RS755766300 RDH5 Health Risk Pathogenic —
RS755766520 COL4A5 Health Risk Conflicting classifications of pathogenicity COL4A5-related disorder, X-linked Alport syndrome
RS755767180 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group D2, Fanconi anemia
RS755768331 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS755769210 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy
RS755770649 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Fibromatosis
RS755771457 CHRNA3 Health Risk Conflicting classifications of pathogenicity Urinary bladder, atony of
RS755775132 IGFALS Health Risk Likely pathogenic —
RS755775223 GLE1 Health Risk Pathogenic —
RS755775428 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS755775484 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
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