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
RS2492096457 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2492100438 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS2492103874 ZMIZ1 Health Risk Likely pathogenic —
RS2492115085 ZMIZ1 Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
RS2492115466 ZMIZ1 Health Risk Likely pathogenic —
RS2492120046 NUP188 Health Risk Pathogenic/Likely pathogenic Sandestig-stefanova syndrome, Sandestig-stefanova syndrome
RS2492120101 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492120455 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2492120752 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2492123019 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2492123085 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492124610 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492126192 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2492126530 ZMIZ1 Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
RS2492126891 DNAI1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2492127338 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2492127795 DNAI1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2492136416 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2492136755 DNAI1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2492138978 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome type 1
RS2492140343 BICC1 Health Risk Likely pathogenic Renal dysplasia, cystic
RS2492157159 ZMIZ1 Health Risk Pathogenic —
RS2492157382 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS2492159830 WAC Health Risk Pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS2492160147 WAC Health Risk Pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS2492162199 RET Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2492172951 ANXA11 Health Risk Pathogenic Oculopharyngeal muscular dystrophy 1, Oculopharyngeal muscular dystrophy 1
RS2492173028 DCLRE1C Health Risk Likely pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS2492174062 DCLRE1C Health Risk Likely pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS2492190902 WAC Health Risk Conflicting classifications of pathogenicity DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS2492191425 WAC Health Risk Pathogenic WAC-related disorder, WAC-related disorder
RS2492202628 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492204554 ZMIZ1 Health Risk Likely pathogenic ZMIZ1-related disorder, ZMIZ1-related disorder
RS2492205344 ZMIZ1 Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
RS2492209822 WAC Health Risk Likely pathogenic —
RS2492218279 ZMIZ1 Health Risk Likely pathogenic —
RS2492219063 CTNNA3 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS2492225611 WAC Health Risk Likely pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS2492226248 WAC Health Risk Pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS2492226994 WAC Health Risk Pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS2492227270 WAC Health Risk Pathogenic —
RS2492229638 NTRK2 Health Risk Pathogenic —
RS2492236593 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492236950 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492237494 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492237556 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2492237648 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492237807 VPS13B Health Risk Pathogenic —
RS2492239255 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492239989 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS2492240037 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2492240973 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2492241039 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492277833 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492278857 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2492278870 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492279007 VPS13B Health Risk Pathogenic —
RS2492279185 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS2492293699 EGR2 Health Risk Conflicting classifications of pathogenicity ERG2-related disorder, Charcot-Marie-Tooth disease type 1D
RS2492293960 EGR2 Health Risk Likely pathogenic —
RS2492297177 KIFBP Health Risk Likely pathogenic Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
RS2492298473 DCLRE1C Health Risk Likely pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS2492301012 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2492301974 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2492316333 SFTPA2 Health Risk Likely pathogenic —
RS2492334575 PCDH15 Health Risk Pathogenic Usher syndrome, Usher syndrome
RS2492343512 PCDH15 Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS2492346869 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492347008 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492347312 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492348009 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2492355723 SLC29A3 Health Risk Pathogenic H syndrome, H syndrome
RS2492368169 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492368181 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492368462 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492369001 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2492371596 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2492375934 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492375984 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492376150 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492377397 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492399115 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency disease
RS2492399843 PCDH15 Health Risk Pathogenic —
RS2492399920 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2492400327 PCDH15 Health Risk Pathogenic —
RS2492406160 PCDH15 Health Risk Pathogenic —
RS2492407812 PCDH15 Health Risk Pathogenic —
RS2492409057 PCDH15 Health Risk Pathogenic —
RS2492409460 PCDH15 Health Risk Pathogenic —
RS2492409608 PCDH15 Health Risk Pathogenic —
RS2492411088 PCDH15 Health Risk Pathogenic —
RS2492411190 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492411438 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492411482 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492412154 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2492412300 PCDH15 Health Risk Pathogenic —
RS2492412442 PCDH15 Health Risk Pathogenic —
RS2492414051 PCDH15 Health Risk Pathogenic —
RS2492414097 PCDH15 Health Risk Pathogenic —
RS2492414569 PCDH15 Health Risk Pathogenic —
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