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
RS767089602 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS767090248 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS767090801 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome 1, Knobloch syndrome 1
RS767090806 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS767092342 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS767093546 PHIP Health Risk Conflicting classifications of pathogenicity PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS767093575 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767093580 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 15, Primary ciliary dyskinesia
RS767094129 TMPRSS6 Health Risk Pathogenic Iron-refractory iron deficiency anemia, Iron-refractory iron deficiency anemia
RS767094468 ASCC1 Health Risk Likely pathogenic —
RS767095541 CHD1 Health Risk Conflicting classifications of pathogenicity Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome
RS767095635 ADAR Health Risk Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS767095639 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS767095759 PFKM Health Risk Pathogenic Glycogen storage disease, type VII
RS767096796 TBC1D8B Health Risk Conflicting classifications of pathogenicity —
RS767096918 TECRL Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS767096926 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, ITGB4-related disorder
RS767097288 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS767097726 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS767098305 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Inborn genetic diseases
RS767099464 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS767100119 ADGRG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767100121 GBE1 Health Risk Likely pathogenic Adult polyglucosan body disease, Glycogen storage disease IV
RS767100749 TCF20 Health Risk Conflicting classifications of pathogenicity —
RS767101129 ABCA12 Health Risk Likely pathogenic —
RS767101212 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS767102177 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS767103091 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS767103109 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group I, Fanconi anemia
RS767103810 BEST1 Health Risk Likely pathogenic Autosomal recessive bestrophinopathy, Autosomal recessive bestrophinopathy
RS767103817 HMBS Health Risk Conflicting classifications of pathogenicity —
RS767103943 RPUSD3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS767104257 GNAS Health Risk Conflicting classifications of pathogenicity Pseudohypoparathyroidism type 1B, Pseudohypoparathyroidism type 1C
RS767104514 DUOXA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DUOXA2-related disorder
RS767104591 IL23R Health Risk Conflicting classifications of pathogenicity —
RS767106034 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS767106920 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
RS767107089 GFPT1 Health Risk Likely pathogenic Congenital myasthenic syndrome, Congenital myasthenic syndrome
RS767107632 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS767108226 DHCR7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Smith-Lemli-Opitz syndrome
RS767109418 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS767109451 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS767110818 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS767111319 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS767111838 CYFIP2 Health Risk Conflicting classifications of pathogenicity —
RS767112991 PROC Health Risk Pathogenic/Likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS76711437 LAMA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767115077 FDXR Health Risk Likely pathogenic —
RS767115144 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS767115441 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS767117446 COQ6 Health Risk Conflicting classifications of pathogenicity Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness
RS767118518 PGM2L1 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, dysmorphic facies
RS767119807 KIDINS220 Health Risk Conflicting classifications of pathogenicity KIDINS220-related disorder, Ovarian serous cystadenocarcinoma
RS767120669 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, TTN-related disorder
RS767121482 SLC5A2 Health Risk Likely pathogenic SLC5A2-related disorder, SLC5A2-related disorder
RS767122069 NDUFS1 Health Risk Likely pathogenic —
RS767122713 MCOLN1 Health Risk Pathogenic/Likely pathogenic Mucolipidosis type IV, Lisch epithelial corneal dystrophy
RS767123396 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS767123748 IMPDH1 Health Risk Pathogenic —
RS767124472 MTRR Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Neural tube defects
RS767126708 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS767126748 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS767126766 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS767126985 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS767127587 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767128094 HSD3B2 Health Risk Pathogenic/Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency, Congenital adrenal hyperplasia
RS767130055 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS767131065 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS767131398 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS767131589 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS767131900 EIF2AK4 Health Risk Likely pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS767134813 NBAS Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS767137418 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS76713772 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS767137840 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinal dystrophy
RS767138032 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS767138285 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS767138852 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS767139201 RNASEH2B Health Risk Likely pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS767139774 WBP11 Health Risk Pathogenic WBP11 spliceosomopathy, Vertebral
RS767140240 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS767140443 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS767140903 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS767141480 TMEM70 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS767141738 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS767142926 SLC6A1 Health Risk Conflicting classifications of pathogenicity Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS767144751 SERPINI1 Health Risk Conflicting classifications of pathogenicity Familial encephalopathy with neuroserpin inclusion bodies, Inborn genetic diseases
RS767146440 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS767146880 MIR204 Health Risk Pathogenic Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome, Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
RS767148121 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS767148171 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
RS76714828 FREM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767150246 PCNT Health Risk Pathogenic PCNT-related disorder, Microcephalic osteodysplastic primordial dwarfism type II
RS767150484 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS767150916 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS767150990 RARS2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS767150997 BBS1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Bardet-Biedl syndrome
RS767153310 GALM Health Risk Pathogenic Galactosemia 4, Galactosemia 4
RS767154505 SLC25A38 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, Sideroblastic anemia 2
RS767155955 ACADS Health Risk Likely pathogenic —
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