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
RS748812637 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS748812857 CHST3 Health Risk Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS748812981 NPHS2 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 2
RS748813106 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS748813647 NOTCH1 Health Risk Likely pathogenic Aortic valve disease 1, Adams-Oliver syndrome 5
RS748813654 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS748814297 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS748814438 DLG3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 90
RS748814615 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS748815162 COL11A1 Health Risk Pathogenic —
RS748816300 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy 6B
RS748817042 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS748817187 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS748818384 CUL7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, 3M syndrome 1
RS748818657 FARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS748819031 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS748819198 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS748819463 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS748819651 MAGEB2 Health Risk Conflicting classifications of pathogenicity —
RS748820015 EVC2 Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS748820389 KMT2D Health Risk Conflicting classifications of pathogenicity KMT2D-related disorder, Kabuki syndrome
RS748821498 PIGN Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS748821559 DNAH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748822553 TTN Health Risk Conflicting classifications of pathogenicity —
RS748822593 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS748824542 RTN2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS748825632 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS748827423 OTOF Health Risk Likely pathogenic —
RS748827625 PDE4D Health Risk Conflicting classifications of pathogenicity Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance
RS748828128 VPS13A Health Risk Pathogenic/Likely pathogenic Chorea-acanthocytosis, VPS13A-related disorder
RS748828135 TRIP4 Health Risk Pathogenic Spinal muscular atrophy with congenital bone fractures 1, Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
RS748828476 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS748828988 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS748829230 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS748829335 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS748829376 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS748829883 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS748830051 GLB1 Health Risk Pathogenic GM1 gangliosidosis type 3, Infantile GM1 gangliosidosis
RS748832566 RAB7A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease type 2B
RS748832988 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS748832999 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748833924 DHDDS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 59, Inborn genetic diseases
RS748834249 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS748835312 SPART Health Risk Pathogenic —
RS748835759 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, COG7-related disorder
RS748835902 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS748836260 KRT5 Health Risk Likely pathogenic —
RS748836778 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS748837264 ABCB11 Health Risk Conflicting classifications of pathogenicity Benign recurrent intrahepatic cholestasis type 2, ABCB11-related disorder
RS748837410 NPC1 Health Risk Pathogenic —
RS748838689 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS748838734 RIT1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, Noonan syndrome 8
RS748838955 EYS Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS748840439 ABCC2 Health Risk Pathogenic —
RS748840480 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS748840635 CEP152 Health Risk Pathogenic —
RS748841641 GATM Health Risk Conflicting classifications of pathogenicity Arginine:glycine amidinotransferase deficiency, Fanconi renotubular syndrome 1
RS748842029 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS748842373 ERCC2 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, Cerebrooculofacioskeletal syndrome 2
RS748842563 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS748842753 ABCB4 Health Risk Pathogenic —
RS748843627 CTR9 Health Risk Conflicting classifications of pathogenicity —
RS748843683 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS748843785 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, COL4A3-related disorder
RS748844266 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS748845915 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS748845919 DST Health Risk Likely pathogenic —
RS748846799 POLRMT Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55
RS748847284 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa
RS748847398 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS748849177 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Alagille syndrome due to a JAG1 point mutation
RS748851107 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS748851550 TMPRSS15 Health Risk Pathogenic/Likely pathogenic Enterokinase deficiency, Enterokinase deficiency
RS748851630 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS748852160 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS748852381 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Retinal dystrophy
RS748852501 CTC1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS748853041 PXDN Health Risk Pathogenic Anterior segment dysgenesis 7, Anterior segment dysgenesis 7
RS748853790 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS748853895 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS748854484 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748854592 STRC Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Spermatogenic failure 7
RS748855270 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS748855369 AHCY Health Risk Conflicting classifications of pathogenicity Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
RS748855607 STRADA Health Risk Pathogenic Polyhydramnios, megalencephaly
RS748855749 PKD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS748856187 COL1A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
RS748856769 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS748857550 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax
RS748858240 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS748858379 ARFGEF2 Health Risk Conflicting classifications of pathogenicity —
RS748858949 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS748860208 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS748860341 GFAP Health Risk Conflicting classifications of pathogenicity Alexander disease, Alexander disease
RS748860589 CAPNS1 Health Risk Pathogenic Pulmonary hypertension, primary
RS748860758 PINK1 Health Risk Likely pathogenic Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS748861506 KMT2B Health Risk Conflicting classifications of pathogenicity Dystonia 28, childhood-onset
RS748861737 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS748862167 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS748862206 ABCB11 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
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