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
RS2529740615 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS2529750335 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529750337 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529750591 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529750602 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529751468 LZTFL1 Health Risk Pathogenic —
RS2529752728 ANO10 Health Risk Pathogenic —
RS2529752808 ANO10 Health Risk Pathogenic —
RS2529753155 COQ2 Health Risk Conflicting classifications of pathogenicity Coenzyme Q10 deficiency, primary
RS2529756208 COQ2 Health Risk Likely pathogenic —
RS2529759017 COQ2 Health Risk Pathogenic —
RS2529760174 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2529761078 RARB Health Risk Likely pathogenic Microphthalmia, Microphthalmia
RS2529761222 COQ2 Health Risk Likely pathogenic Multiple system atrophy 1, susceptibility to
RS2529761251 RARB Health Risk Pathogenic Microphthalmia, Microphthalmia
RS2529761773 RARB Health Risk Likely pathogenic —
RS2529762014 DCAF17 Health Risk Pathogenic Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS2529763524 LZTFL1 Health Risk Pathogenic —
RS2529763694 PCCB Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529763703 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2529763737 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2529763878 PCCB Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529764039 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529764469 LZTFL1 Health Risk Pathogenic Bardet-Biedl syndrome 17, Bardet-Biedl syndrome 17
RS2529766743 ARL6 Health Risk Pathogenic Bardet-Biedl syndrome 3, Retinitis pigmentosa 55
RS2529772680 PITX2 Health Risk Pathogenic Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1
RS2529773041 PITX2 Health Risk Pathogenic Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1
RS2529773049 PITX2 Health Risk Likely pathogenic PITX2-related disorder, PITX2-related disorder
RS2529773071 PITX2 Health Risk Pathogenic Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1
RS2529773099 PITX2 Health Risk Likely pathogenic Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1
RS2529773117 PITX2 Health Risk Pathogenic Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1
RS2529773540 PITX2 Health Risk Pathogenic Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1
RS2529776935 GP9 Health Risk Pathogenic —
RS2529776939 GP9 Health Risk Pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS2529777394 GP9 Health Risk Likely pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS2529777952 LZTFL1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2529780250 PROM1 Health Risk Pathogenic —
RS2529781949 DCAF17 Health Risk Pathogenic Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS2529782157 DCAF17 Health Risk Pathogenic Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS2529782284 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2529786780 ANO10 Health Risk Pathogenic —
RS2529787009 LZTFL1 Health Risk Likely pathogenic —
RS2529790328 ANO10 Health Risk Likely pathogenic —
RS2529794608 DCAF17 Health Risk Pathogenic Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS2529794802 DCAF17 Health Risk Pathogenic Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS2529794997 DCAF17 Health Risk Likely pathogenic Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS2529805271 RAP1GDS1 Health Risk Pathogenic Alfadhel syndrome, Alfadhel syndrome
RS2529807772 DCAF17 Health Risk Likely pathogenic Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS2529807779 DCAF17 Health Risk Pathogenic Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS2529810344 LHCGR Health Risk Pathogenic Leydig cell agenesis, Leydig cell agenesis
RS2529813625 LZTFL1 Health Risk Pathogenic —
RS2529818242 AFG2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2529826095 RARB Health Risk Pathogenic Congenital ocular coloboma, Congenital ocular coloboma
RS2529826336 RARB Health Risk Likely pathogenic Microphthalmia, Microphthalmia
RS2529826385 RARB Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2529836083 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2529836234 PCCB Health Risk Likely pathogenic —
RS2529836308 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529840041 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2529843313 PRDM5 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2529866093 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529866288 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2529875985 ANO10 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS2529877254 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS2529877419 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529877487 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2529877601 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529877692 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529878581 ANO10 Health Risk Pathogenic —
RS2529879317 ANO10 Health Risk Pathogenic —
RS2529880282 HTRA2 Health Risk Pathogenic —
RS2529894056 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529894068 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529894121 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529895361 ARL6 Health Risk Pathogenic Bardet-Biedl syndrome 3, Retinitis pigmentosa 55
RS2529896796 ARL6 Health Risk Pathogenic Bardet-Biedl syndrome 3, Retinitis pigmentosa 55
RS2529896839 ARL6 Health Risk Likely pathogenic Retinitis pigmentosa 55, Bardet-Biedl syndrome 3
RS2529909206 HTRA2 Health Risk Conflicting classifications of pathogenicity —
RS2529919336 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS2529923390 HNRNPD Health Risk Pathogenic —
RS2529929830 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2529936900 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529937188 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529937598 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2529939513 ARL6 Health Risk Pathogenic Retinitis pigmentosa 55, Retinitis pigmentosa 55
RS2529939726 ARL6 Health Risk Pathogenic Bardet-Biedl syndrome 3, Retinitis pigmentosa 55
RS2529941574 ARL6 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2529970244 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529970250 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529970405 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2529970463 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2529970523 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529970593 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529971841 LRAT Health Risk Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS2529971938 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529972010 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529972056 PCCB Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529972069 LRAT Health Risk Pathogenic —
RS2529972075 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529972276 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
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