SNP Directory

400,964 genetic variants in our database.

Clear
All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS888140182 ARL6 Health Risk Likely pathogenic —
RS888212988 MALT1 Health Risk Likely pathogenic Combined immunodeficiency due to MALT1 deficiency, Hepatocellular carcinoma
RS888230251 BCL11B Health Risk Pathogenic/Likely pathogenic Immunodeficiency 49, Intellectual developmental disorder with speech delay
RS888239971 KMT5B Health Risk Conflicting classifications of pathogenicity —
RS888244000 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS888250694 DNAJC21 Health Risk Conflicting classifications of pathogenicity —
RS888258532 STIL Health Risk Conflicting classifications of pathogenicity Microcephaly 7, primary
RS888280826 OTOG Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS888296694 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS888369922 UBA1 Health Risk Conflicting classifications of pathogenicity Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases
RS888371213 DLL3 Health Risk Likely pathogenic Spondylocostal dysostosis 1, autosomal recessive
RS888391580 NOTCH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS888409241 TWNK Health Risk Pathogenic —
RS888517622 TNFAIP3 Health Risk Pathogenic —
RS888610698 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 1
RS888620136 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS888630930 FDX2 Health Risk Likely pathogenic Inborn mitochondrial myopathy, Inborn mitochondrial myopathy
RS888631588 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS888633730 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
RS888647994 HSPG2 Health Risk Pathogenic —
RS888653334 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS888685157 LORICRIN Health Risk Likely pathogenic Loricrin keratoderma, Loricrin keratoderma
RS888691362 MUTYH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS888728353 CYP7A1 Health Risk Conflicting classifications of pathogenicity —
RS888739369 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinitis pigmentosa
RS888826541 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS888830612 LAMB2 Health Risk Likely pathogenic Pierson syndrome, Pierson syndrome
RS888839405 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS888843580 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS888852861 RTTN Health Risk Pathogenic —
RS888909415 SLC5A1 Health Risk Pathogenic Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS888916696 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS888930078 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS889012564 BBS4 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS889073641 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS889092603 GPD1 Health Risk Conflicting classifications of pathogenicity Transient infantile hypertriglyceridemia and hepatosteatosis, Transient infantile hypertriglyceridemia and hepatosteatosis
RS889110926 LOXHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS889113421 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS889177031 SOX6 Health Risk Likely pathogenic —
RS889179187 NECTIN1 Health Risk Conflicting classifications of pathogenicity Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS889180452 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS889208749 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS889228888 ATF6 Health Risk Pathogenic —
RS889238270 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS889241219 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS889262310 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS889274189 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS889348474 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS889395877 GALNT12 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS889397926 FBXO11 Health Risk Conflicting classifications of pathogenicity —
RS889404566 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS889417696 BBS7 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 7
RS889453292 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2
RS889462287 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS889480427 VPS13D Health Risk Pathogenic —
RS889505130 AKT1 Health Risk Conflicting classifications of pathogenicity Cowden syndrome 6, Inborn genetic diseases
RS889543097 NAA15 Health Risk Pathogenic Intellectual disability, autosomal dominant 50
RS889550402 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS889605875 G6PC3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS889624353 TRAPPC9 Health Risk Pathogenic Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome, Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
RS889640594 ALPL Health Risk Likely pathogenic Adult hypophosphatasia, Adult hypophosphatasia
RS889691005 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS889723987 PNPLA6 Health Risk Conflicting classifications of pathogenicity Spastic ataxia, Spastic ataxia
RS889875676 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS889877039 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS889942574 AFG3L2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS889957249 PLG Health Risk Pathogenic Hereditary angioneurotic edema, Angioedema
RS889984547 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS890029950 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS890051054 LZTR1 Health Risk Pathogenic —
RS890062959 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS890068806 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS890101650 CSF3R Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS890106099 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS890128759 KIZ Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS890152763 WDR19 Health Risk Likely pathogenic Inborn genetic diseases, Asphyxiating thoracic dystrophy 5
RS890172773 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS890185415 TUBB1 Health Risk Likely pathogenic Macrothrombocytopenia, isolated
RS890215101 ARID1B Health Risk Conflicting classifications of pathogenicity Hereditary ataxia, Hereditary ataxia
RS890255177 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS890258715 MERTK Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Retinal dystrophy
RS890271209 COG8 Health Risk Likely pathogenic —
RS890324171 POGZ Health Risk Conflicting classifications of pathogenicity POGZ-related disorder, Inborn genetic diseases
RS890325688 LRIT3 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1F, Congenital stationary night blindness 1F
RS890363450 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS890365920 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS890375954 IFT74 Health Risk Pathogenic —
RS890402869 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS890412935 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS890413153 MCM4 Health Risk Conflicting classifications of pathogenicity —
RS890418965 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS890419135 GATA2 Health Risk Conflicting classifications of pathogenicity Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome
RS890421496 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS890453675 CRB1 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis 8
RS890456700 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS890465248 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS890477253 COLQ Health Risk Likely pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS890521687 H2AC16 Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS890599236 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS890665355 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
« Prev 1 ... 3956 3957 3958 3959 3960 3961 3962 ... 4010 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →