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
RS375990084 SLC12A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial hypokalemia-hypomagnesemia
RS375990501 CYP19A1 Health Risk Conflicting classifications of pathogenicity Aromatase deficiency, Aromatase excess syndrome
RS375990655 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS375993195 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS375993206 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS375994227 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS375994752 FAT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375996272 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS375996521 PACS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375996640 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome
RS375997049 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS375997435 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS375998236 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS375998275 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Holoprosencephaly 7
RS375998390 FAT1 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS375998723 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Congenital myopathy 20
RS375998777 F11 Health Risk Conflicting classifications of pathogenicity Hereditary factor XI deficiency disease, Plasma factor XI deficiency
RS375999143 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS375999352 TNNT1 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 5, Nemaline myopathy 5
RS375999824 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS376000381 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS376000406 AQP2 Health Risk Pathogenic —
RS376001204 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS376002858 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Tip-toe gait
RS376002987 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS376003468 GATA2 Health Risk Pathogenic/Likely pathogenic Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS376004946 ADGRV1 Health Risk Conflicting classifications of pathogenicity ADGRV1-related disorder, ADGRV1-related disorder
RS376005629 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS376006013 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS376006808 PRPF3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS376008276 SEPTIN9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376008324 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS376008630 CFTR Health Risk Pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS376009508 PLOD2 Health Risk Conflicting classifications of pathogenicity Bruck syndrome 2, Bruck syndrome 2
RS376009962 TNRC6B Health Risk Pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS376010452 LTBP4 Health Risk Conflicting classifications of pathogenicity —
RS376010721 NARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376011036 LAMA1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS376011228 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, Intellectual disability
RS376011638 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS376012117 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS376012267 OFD1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome I, Joubert syndrome
RS376012799 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS376013474 SLC27A5 Health Risk Conflicting classifications of pathogenicity SLC27A5-related disorder, SLC27A5-related disorder
RS376013528 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 1
RS376013888 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376014152 LAMA2 Health Risk Conflicting classifications of pathogenicity Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS376015598 SLC25A22 Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early-infantile DEE
RS376015681 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS376015894 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS376016676 PEPD Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS376016716 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, CNGB1-related disorder
RS376017665 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS376018314 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS376018437 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS376018780 SOX6 Health Risk Pathogenic Tolchin-Le Caignec syndrome, Tolchin-Le Caignec syndrome
RS376019197 AEBP1 Health Risk Conflicting classifications of pathogenicity —
RS376019404 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS376020180 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS376020564 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS376021820 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS376022094 RIPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376022200 MYH7 Health Risk Conflicting classifications of pathogenicity Familial cardiomyopathy, Hypertrophic cardiomyopathy
RS376022544 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS376023896 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS376024832 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS376024929 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS376025020 NDUFS7 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS376026510 GPC4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376029089 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS376029425 ASXL1 Health Risk Pathogenic Thyroid cancer, nonmedullary
RS376029542 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS376030299 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS376031029 COL4A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376031632 GLIS3 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Neonatal diabetes mellitus with congenital hypothyroidism
RS376032574 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Short stature-optic atrophy-Pelger-Huët anomaly syndrome
RS376032650 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS376033376 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS376034559 GLB1 Health Risk Likely pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS376035195 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS376035565 CYP21A2 Health Risk Conflicting classifications of pathogenicity CYP21A2-related disorder, ADRENAL HYPERPLASIA
RS376035653 TTC8 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 8
RS376036303 MYLK3 Health Risk Conflicting classifications of pathogenicity —
RS376037252 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Myopathy
RS376037792 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS376038191 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS376038359 CLCNKB Health Risk Conflicting classifications of pathogenicity —
RS376038413 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS376039101 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS376039623 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS376039938 DPAGT1 Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation
RS376040199 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS376040501 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS376041792 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 4, Cardiomyopathy
RS376041812 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS376042415 CTNS Health Risk Pathogenic/Likely pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS376042544 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS376043057 JUP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Naxos disease
RS3760436 DNAH9 Health Risk Conflicting classifications of pathogenicity DNAH9-related disorder, Ciliary dyskinesia
RS376044376 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
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