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
RS1303126934 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS1303127476 SULT2B1 Health Risk Likely pathogenic Ichthyosis, congenital
RS1303129574 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1303151771 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1303165645 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Melanoma
RS1303168294 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1303177735 HADHA Health Risk Pathogenic/Likely pathogenic Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1303186336 P3H2 Health Risk Pathogenic —
RS1303193834 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1303215579 CACNA1S Health Risk Pathogenic Hypokalemic periodic paralysis, type 1
RS1303235274 TBCE Health Risk Pathogenic —
RS1303254121 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1303261390 TYRP1 Health Risk Pathogenic —
RS1303268147 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1303270704 FREM2 Health Risk Conflicting classifications of pathogenicity —
RS1303279241 ELANE Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital
RS1303287747 PRX Health Risk Pathogenic —
RS1303289867 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1303294230 SPG11 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 5, Hereditary spastic paraplegia
RS1303311376 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1303324683 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1303325551 ZSCAN10 Health Risk Pathogenic ZSCAN10 Deficiency, Sensorineural hearing loss disorder
RS1303348930 DHX30 Health Risk Pathogenic Neurodevelopmental disorder with severe motor impairment and absent language, Neurodevelopmental disorder with severe motor impairment and absent language
RS1303357315 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS1303361703 CLCN2 Health Risk Pathogenic Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Leukoencephalopathy with mild cerebellar ataxia and white matter edema
RS1303392945 OCLN Health Risk Pathogenic —
RS1303407564 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1303411209 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Nemaline myopathy 6
RS1303416855 CEP250 Health Risk Pathogenic —
RS1303418808 ARID1B Health Risk Pathogenic —
RS1303426916 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1303434565 ADAM22 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 61
RS1303447354 GARS1 Health Risk Conflicting classifications of pathogenicity See cases, Charcot-Marie-Tooth disease type 2
RS1303453819 RHO Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1303454567 ODAD1 Health Risk Pathogenic Primary ciliary dyskinesia 20, Primary ciliary dyskinesia 20
RS1303470125 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS1303476982 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS1303492021 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS1303557405 KLKB1 Health Risk Pathogenic Inherited prekallikrein deficiency, Inherited prekallikrein deficiency
RS1303559181 ACD Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 6
RS1303561743 ANO10 Health Risk Pathogenic —
RS1303562049 GSTZ1 Health Risk Pathogenic Maleylacetoacetate isomerase deficiency, Maleylacetoacetate isomerase deficiency
RS1303564849 PROM1 Health Risk Pathogenic —
RS1303599332 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1303613101 NR2E3 Health Risk Pathogenic/Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS1303617854 PHKB Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS1303620777 STAR Health Risk Pathogenic —
RS1303625185 SCAPER Health Risk Likely pathogenic Intellectual developmental disorder and retinitis pigmentosa, IDDRP
RS1303637368 TNFRSF13B Health Risk Pathogenic Immunodeficiency, common variable
RS1303653650 ATP13A2 Health Risk Pathogenic Inborn genetic diseases, Kufor-Rakeb syndrome
RS1303655653 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS1303665345 BCL11A Health Risk Pathogenic —
RS1303667371 SAMHD1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS1303686019 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1303690601 AMN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS1303728412 CDK10 Health Risk Pathogenic Al Kaissi syndrome, Al Kaissi syndrome
RS1303732063 CLDN19 Health Risk Likely pathogenic Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement
RS1303748284 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1303770209 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS1303773212 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1303774639 GLB1 Health Risk Likely pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS1303785635 KCNT1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy
RS1303788392 GSS Health Risk Conflicting classifications of pathogenicity Inherited glutathione synthetase deficiency, Inborn genetic diseases
RS1303795065 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS1303812580 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, CBL-related disorder
RS1303813611 EFHC1 Health Risk Conflicting classifications of pathogenicity Absence seizure, Myoclonic epilepsy
RS1303817555 RXYLT1 Health Risk Likely pathogenic —
RS1303821903 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1303829798 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1303835934 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1303837541 IGHMBP2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Autosomal recessive distal spinal muscular atrophy 1
RS1303840855 ODAD4 Health Risk Pathogenic Heterotaxy, Heterotaxy
RS1303851095 TBCK Health Risk Pathogenic Hypotonia, infantile
RS1303861168 AAGAB Health Risk Pathogenic —
RS1303867228 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1303877451 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1303879665 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1303880423 SH2D1A Health Risk Conflicting classifications of pathogenicity X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS1303913631 NPR2 Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 1, Maroteaux type
RS1303930496 ADGRV1 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS1303947345 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1303947821 SIX1 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 23, Autosomal dominant nonsyndromic hearing loss 23
RS1303961688 ETFB Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1303964272 TCTN1 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1303970751 LRP5 Health Risk Pathogenic —
RS1303972238 NF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1303980611 COL11A2 Health Risk Pathogenic —
RS1303988486 GRIN2D Health Risk Conflicting classifications of pathogenicity —
RS1303996018 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1304001811 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1304003703 FASTKD2 Health Risk Likely pathogenic Combined oxidative phosphorylation deficiency 44, Combined oxidative phosphorylation deficiency 44
RS1304016981 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Usher syndrome
RS1304024631 BRF1 Health Risk Likely pathogenic BRF1-related disorder, BRF1-related disorder
RS1304057833 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1304065271 PROM1 Health Risk Pathogenic Isolated macular dystrophy, Isolated macular dystrophy
RS1304078301 KANSL1 Health Risk Pathogenic/Likely pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS1304085334 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1304090710 PLEKHM1 Health Risk Likely pathogenic Osteopetrosis, autosomal dominant 3
RS1304100342 MTO1 Health Risk Pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS1304104449 AP3B2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 48
« Prev 1 ... 358 359 360 361 362 363 364 ... 4509 Next »

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

Get Started Free →