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
RS1716492953 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1716511604 RAB28 Health Risk Pathogenic —
RS1716524583 OPA1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant optic atrophy classic form, OPA1-related disorder
RS1716527148 OPA1 Health Risk Pathogenic —
RS1716552711 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1716561509 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1716637067 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1716671130 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1716716102 SLC2A2 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS1716766263 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1716781226 OPA1 Health Risk Pathogenic —
RS1716841949 CC2D2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1716848997 TBL1XR1 Health Risk Pathogenic Pierpont syndrome, Pierpont syndrome
RS1716886666 CC2D2A Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1716895762 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1716920045 TBL1XR1 Health Risk Likely pathogenic Pierpont syndrome, Pierpont syndrome
RS1716943798 CLDN1 Health Risk Pathogenic —
RS1717034691 NSD2 Health Risk Pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS1717114995 TBL1XR1 Health Risk Pathogenic/Likely pathogenic Pierpont syndrome, TBL1XR1-related disorder
RS1717116134 TBL1XR1 Health Risk Pathogenic/Likely pathogenic Pierpont syndrome, Intellectual disability
RS1717244500 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1717252361 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 14, Primary ciliary dyskinesia
RS1717259479 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1717267418 CCDC39 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS1717268208 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1717279590 EVC2 Health Risk Likely pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS17173509 KCNE1 Health Risk Likely pathogenic Long QT syndrome 5, Long QT syndrome
RS1717357943 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS17173698 PAPSS2 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, PAPSS2 type
RS17173752 UROS Health Risk Conflicting classifications of pathogenicity Cutaneous porphyria, Cutaneous porphyria
RS1717421668 TP63 Health Risk Conflicting classifications of pathogenicity TP63-Related Spectrum Disorders, Ectrodactyly
RS17174393 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1717462000 PLD1 Health Risk Pathogenic —
RS1717481370 SI Health Risk Pathogenic —
RS1717541693 PROM1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1717552752 MTTP Health Risk Pathogenic —
RS1717568150 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS17175750 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS1717586613 CC2D2A Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1717589360 NSD2 Health Risk Pathogenic NSD2-associated disorder, atypical Wolf-Hirschhorn syndrome
RS1717695462 CCDC39 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS1717730695 SI Health Risk Pathogenic —
RS1717925328 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1717963637 CCDC39 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1717971093 CCDC39 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1717980926 IL7R Health Risk Pathogenic Breast neoplasm, Breast neoplasm
RS1718019180 SI Health Risk Pathogenic —
RS1718020912 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1718026198 TP63 Health Risk Likely pathogenic TP63-Related Spectrum Disorders, Split hand-foot malformation 4
RS1718069979 IFT80 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1718119792 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia 14, Primary ciliary dyskinesia 14
RS1718163724 CC2D2A Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1718195095 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia 14, Primary ciliary dyskinesia 14
RS1718196012 QDPR Health Risk Pathogenic/Likely pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS1718204545 CCDC39 Health Risk Likely pathogenic Primary ciliary dyskinesia 14, Primary ciliary dyskinesia 14
RS17182463 FGFR1 Health Risk Conflicting classifications of pathogenicity Trigonocephaly 1, Craniosynostosis syndrome
RS1718310043 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1718392791 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1718406119 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1718431677 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1718540793 SI Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1718608300 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1718622890 MME Health Risk Likely pathogenic —
RS1718661487 SI Health Risk Pathogenic/Likely pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS1718726537 PROM1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1718768311 PROM1 Health Risk Likely pathogenic Retinal macular dystrophy type 2, Retinitis pigmentosa 41
RS1718790934 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1718837805 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS1718842724 FRAS1 Health Risk Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1718846418 FRAS1 Health Risk Pathogenic/Likely pathogenic FRAS1-related disorder, Fraser syndrome 1
RS1718847595 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1718907702 FRAS1 Health Risk Pathogenic —
RS1718972826 ALG3 Health Risk Likely pathogenic Congenital disorder of glycosylation, Congenital disorder of glycosylation
RS1718987504 CLDN16 Health Risk Likely pathogenic Primary hypomagnesemia, Primary hypomagnesemia
RS1719050838 FRAS1 Health Risk Pathogenic —
RS1719068613 ALG3 Health Risk Likely pathogenic ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS1719083745 ALG3 Health Risk Likely pathogenic ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS1719092280 CC2D2A Health Risk Pathogenic Meckel syndrome, type 6
RS1719216479 PROM1 Health Risk Pathogenic —
RS17192296 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Hereditary spastic paraplegia
RS1719235551 PLD1 Health Risk Likely pathogenic Cardiac valvular defect, developmental
RS1719285721 PROM1 Health Risk Pathogenic Cone-rod dystrophy, Cone-rod dystrophy
RS1719307363 PROM1 Health Risk Pathogenic —
RS1719342163 PDCD10 Health Risk Likely pathogenic —
RS1719352298 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS1719440437 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS1719469952 NSD2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1719513784 PIGG Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 53
RS1719727262 NSD2 Health Risk Likely pathogenic —
RS1719735626 FRAS1 Health Risk Likely pathogenic —
RS1719758355 PDCD10 Health Risk Likely pathogenic PDCD10-related disorder, PDCD10-related disorder
RS1719762092 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation
RS1719804501 PROM1 Health Risk Likely pathogenic —
RS1719828511 FRAS1 Health Risk Pathogenic Renal agenesis, Renal agenesis
RS1719856599 SSR3 Health Risk Likely pathogenic Congenital disorder of glycosylation, Congenital disorder of glycosylation
RS1719882659 REST Health Risk Pathogenic —
RS1719897819 REST Health Risk Pathogenic —
RS1719930798 CC2D2A Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1719933188 CC2D2A Health Risk Likely pathogenic Joubert syndrome 9, Meckel syndrome
RS1719937487 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
« Prev 1 ... 1201 1202 1203 1204 1205 1206 1207 ... 4509 Next »

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

Get Started Free →