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
RS749235545 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS749235580 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS749236379 MYO7A Health Risk Likely pathogenic —
RS749236786 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS749237210 TJP2 Health Risk Pathogenic/Likely pathogenic Cholestasis, progressive familial intrahepatic
RS749237456 OCLN Health Risk Pathogenic Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1
RS749238502 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS749239319 ZBTB18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749240175 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
RS749240316 SLC6A1 Health Risk Conflicting classifications of pathogenicity Epilepsy with myoclonic atonic seizures, Intellectual disability
RS749240829 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS749240880 ADA2 Health Risk Pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS749242473 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS749242996 RPE65 Health Risk Likely pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS749243428 KRT9 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma, epidermolytic
RS749243696 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS749244396 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS749244720 MYH6 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 3, Hypertrophic cardiomyopathy 14
RS749245318 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS749246611 DDC Health Risk Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS749247710 NOG Health Risk Pathogenic Stapes ankylosis with broad thumbs and toes, Stapes ankylosis with broad thumbs and toes
RS749248039 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS749249146 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations
RS749249788 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Acne inversa
RS749249918 OCA2 Health Risk Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS749250094 EPHB4 Health Risk Pathogenic —
RS749250864 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS749251178 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS749251299 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS749251511 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS749251680 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS749252830 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS749252902 ABCA4 Health Risk Pathogenic —
RS749253325 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, 8 conditions
RS749253483 RGS9 Health Risk Pathogenic —
RS749254899 MC2R Health Risk Pathogenic Glucocorticoid deficiency 1, Glucocorticoid deficiency 1
RS749256215 RAG1 Health Risk Pathogenic Histiocytic medullary reticulosis, Combined immunodeficiency due to partial RAG1 deficiency
RS749256406 EIF2B5 Health Risk Likely pathogenic —
RS749256529 COL7A1 Health Risk Pathogenic Generalized dominant dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS749257014 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS74925710 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS749257605 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS749257673 PIEZO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749257861 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS749258007 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS749261159 CPLANE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749261204 PCARE Health Risk Likely pathogenic Retinitis pigmentosa 54, Retinitis pigmentosa 54
RS749261391 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS749263651 NBN Health Risk Likely pathogenic —
RS749264393 PEX11A Health Risk Conflicting classifications of pathogenicity —
RS749264632 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS749265202 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Inborn genetic diseases
RS749265205 RNF168 Health Risk Pathogenic —
RS749265748 NODAL Health Risk Conflicting classifications of pathogenicity Heterotaxy, visceral
RS749266351 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS749266717 PRKCG Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS749266841 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, 11p partial monosomy syndrome
RS749267101 MTOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749267223 FGD4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS749268264 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS749270151 GOSR2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Inborn genetic diseases
RS749270162 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS749270254 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, Inborn genetic diseases
RS749270448 NHS Health Risk Conflicting classifications of pathogenicity Nance-Horan syndrome, Inborn genetic diseases
RS749270618 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS749271066 TPM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y
RS749271190 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS749271421 FLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749272546 LMBRD1 Health Risk Pathogenic Inborn genetic diseases, Methylmalonic aciduria and homocystinuria type cblF
RS749273088 SGCD Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases
RS749277249 WWOX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS749278394 FOXP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749278720 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS749279060 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS749279138 SMARCA2 Health Risk Conflicting classifications of pathogenicity —
RS749279630 NBEAL2 Health Risk Conflicting classifications of pathogenicity Gray platelet syndrome, Gray platelet syndrome
RS749280773 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS749282192 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS749282641 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS749282837 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome
RS749283347 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS749284008 GAMT Health Risk Likely pathogenic Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome
RS749284326 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749285212 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS749285570 TYK2 Health Risk Pathogenic Immunodeficiency 35, Immunodeficiency 35
RS749285793 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS749285937 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS749286148 WDPCP Health Risk Likely pathogenic Bardet-Biedl syndrome 15, Heart defect - tongue hamartoma - polysyndactyly syndrome
RS749287034 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS749287111 BRAF Health Risk Likely pathogenic —
RS749287203 RAPSN Health Risk Pathogenic Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS749287212 CDH23 Health Risk Likely pathogenic —
RS749288233 PIEZO1 Health Risk Conflicting classifications of pathogenicity Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
RS749288251 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS749288299 NDUFAF5 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS749289195 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS749291716 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS749293235 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS749294057 AHDC1 Health Risk Pathogenic/Likely pathogenic See cases, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS749294164 RP1L1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
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