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
RS754135892 EVC Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS754136153 ENG Health Risk Likely pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS754137355 NPHP1 Health Risk Pathogenic Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
RS754137452 MYCN Health Risk Pathogenic Feingold syndrome type 1, Megalencephaly-polydactyly syndrome
RS754137583 LAMB2 Health Risk Pathogenic LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS754138115 MYH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754140768 TK2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, myopathic form
RS754142863 FBXL4 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 13, Inborn genetic diseases
RS754142876 MMADHC Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria and homocystinuria type cblD, MMADHC-related disorder
RS754142951 TBX3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754143671 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS754143860 GLI3 Health Risk Conflicting classifications of pathogenicity Hepatoblastoma, Pallister-Hall syndrome
RS754144089 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS754144189 TTN Health Risk Conflicting classifications of pathogenicity —
RS754145030 HBA1 Health Risk Conflicting classifications of pathogenicity HBA1-related disorder, HBA1-related disorder
RS754145990 HADHA Health Risk Pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS754146050 PAX2 Health Risk Pathogenic Focal segmental glomerulosclerosis 7, Renal coloboma syndrome
RS754146345 COL4A3 Health Risk Conflicting classifications of pathogenicity —
RS754146758 CNGB1 Health Risk Likely pathogenic Retinitis pigmentosa 45, Retinitis pigmentosa 45
RS754147042 GBA2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS754147208 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Inborn genetic diseases
RS754149098 LMNB2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 9, Lipodystrophy
RS754150704 ACTN2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1AA
RS754150739 SLC17A5 Health Risk Likely pathogenic Salla disease, Salla disease
RS754152337 ST3GAL5 Health Risk Conflicting classifications of pathogenicity GM3 synthase deficiency, GM3 synthase deficiency
RS754154177 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS754154200 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Hurler syndrome
RS754155714 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS754156411 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS754157433 ADAMTS2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS754158494 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS754158805 CNGA3 Health Risk Pathogenic Achromatopsia 2, CNGA3-related disorder
RS754158945 SEMA3E Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, SEMA3E-related disorder
RS754159168 PNLDC1 Health Risk Pathogenic Spermatogenic failure 57, Spermatogenic failure 57
RS754161411 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS754162070 TELO2 Health Risk Pathogenic/Likely pathogenic TELO2-related intellectual disability-neurodevelopmental disorder, TELO2-related intellectual disability-neurodevelopmental disorder
RS754162352 LOX Health Risk Likely pathogenic —
RS754162988 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS754162997 ROBO3 Health Risk Pathogenic —
RS754163075 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS754164679 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS754166423 RSPH3 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 32, Inborn genetic diseases
RS754166849 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS754167205 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS754168138 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS754168978 EP300 Health Risk Conflicting classifications of pathogenicity EP300-related disorder, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS754169968 A2ML1 Health Risk Conflicting classifications of pathogenicity A2ML1-related disorder, A2ML1-related disorder
RS754170105 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS754170584 CACNA1G Health Risk Conflicting classifications of pathogenicity —
RS754172009 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS754172417 KCNH1 Health Risk Conflicting classifications of pathogenicity KCNH1-related disorder, KCNH1-related disorder
RS754174029 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2
RS754174678 LRP5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754175266 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS754175473 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS754176065 CSF3R Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS754177085 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, DYSF-related disorder
RS754178539 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS754179275 DUOX2 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS754179756 TWIST1 Health Risk Likely pathogenic TWIST1-related disorder, TWIST1-related craniosynostosis
RS754180012 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS754182168 GAN Health Risk Conflicting classifications of pathogenicity Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS754182768 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS754182905 ABCG8 Health Risk Pathogenic Sitosterolemia 1, Sitosterolemia 1
RS754183765 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS754184016 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS754184488 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS754184596 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS754186165 DHX37 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, Neurodevelopmental delay
RS754187386 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, COL18A1-related disorder
RS75418934 ABCD3 Health Risk Conflicting classifications of pathogenicity Uterine corpus endometrial carcinoma, Cervical cancer
RS754192137 VPS13A Health Risk Likely pathogenic —
RS754192939 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS754192985 SFXN4 Health Risk Conflicting classifications of pathogenicity —
RS754193088 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
RS754193314 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS754194692 CABP4 Health Risk Conflicting classifications of pathogenicity —
RS754194901 CABP4 Health Risk Pathogenic —
RS754195015 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS754195561 PNPLA6 Health Risk Likely pathogenic —
RS754196388 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS754196530 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS754197041 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS754197837 SKIC3 Health Risk Pathogenic/Likely pathogenic Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS754198411 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS754199607 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS754199774 PHKB Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS754199908 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS754200057 TMTC3 Health Risk Likely pathogenic Lissencephaly 8, Lissencephaly 8
RS754200115 TSEN2 Health Risk Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS754201076 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS754201217 FGF23 Health Risk Pathogenic —
RS754201976 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS754202690 ETFA Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Inborn genetic diseases
RS754203248 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS754203387 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Inborn genetic diseases
RS754203636 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS754203833 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS754204295 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B
RS754205110 UNC13D Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
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