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
RS2133737748 ABCC8 Health Risk Pathogenic Hereditary hyperinsulinism, Hereditary hyperinsulinism
RS2133737797 ABCC8 Health Risk Pathogenic —
RS2133737961 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS2133738006 ABCC8 Health Risk Pathogenic/Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2133738359 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS2133738442 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS2133738890 ANO5 Health Risk Pathogenic —
RS2133747497 ANO5 Health Risk Pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS2133747657 ANO5 Health Risk Pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS2133747827 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS2133748193 WDR11 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 78
RS2133750487 ANO5 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS2133750610 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2133750928 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS2133750942 KCNQ1 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS2133753509 PIDD1 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 75
RS2133754700 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS2133754743 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS2133754863 KCNQ1 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Cardiovascular phenotype
RS2133758146 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2133758295 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2133758446 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2133758591 KCNQ1 Health Risk Pathogenic/Likely pathogenic Long QT syndrome 1, Cardiovascular phenotype
RS2133759109 PIDD1 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 75
RS2133760795 KCNQ1 Health Risk Pathogenic Long QT syndrome, Cardiac arrhythmia
RS2133762469 GFRA1 Health Risk Pathogenic Renal hypodysplasia/aplasia 4, Renal hypodysplasia/aplasia 4
RS2133764725 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2133768184 PIDD1 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 75
RS2133773932 KCNC1 Health Risk Likely pathogenic —
RS2133774690 SLC6A5 Health Risk Likely pathogenic Hyperekplexia 3, Hyperekplexia 3
RS2133775660 SLC6A5 Health Risk Likely pathogenic Hyperekplexia 3, Hyperekplexia 3
RS2133777379 GLUD1 Health Risk Pathogenic Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome
RS2133778981 ANO5 Health Risk Likely pathogenic —
RS2133780268 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2133780364 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2133780371 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, IMAGe syndrome
RS2133782023 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2133782104 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2133782940 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome
RS2133783113 CDKN1C Health Risk Likely pathogenic —
RS2133783226 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome
RS2133783249 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2133783326 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome
RS2133784672 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2133784715 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2133784748 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, IMAGe syndrome
RS2133785467 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2133785530 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2133785682 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2133785693 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2133785723 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2133785734 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2133785873 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2133786067 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2133786225 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2133786397 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS2133786425 USH1C Health Risk Pathogenic —
RS2133788446 SLC6A5 Health Risk Likely pathogenic Hyperekplexia 3, Hyperekplexia 3
RS2133788907 GLUD1 Health Risk Conflicting classifications of pathogenicity Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome
RS2133794292 PITX3 Health Risk Likely pathogenic Developmental cataract, Developmental cataract
RS2133794937 PITX3 Health Risk Pathogenic —
RS2133795361 ANO5 Health Risk Likely pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS2133796065 GLUD1 Health Risk Likely pathogenic —
RS2133797177 FANCF Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group F, Fanconi anemia
RS2133797345 FANCF Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2133797511 FANCF Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2133797515 FANCF Health Risk Pathogenic Fanconi anemia complementation group F, Fanconi anemia complementation group F
RS2133798073 FANCF Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2133798188 FANCF Health Risk Pathogenic Fanconi anemia complementation group F, Fanconi anemia complementation group F
RS2133798401 SLC6A5 Health Risk Pathogenic Hyperekplexia 3, Hyperekplexia 3
RS2133798885 FANCF Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group F
RS2133798927 FANCF Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2133799697 PCDH15 Health Risk Likely pathogenic —
RS2133800091 ANO5 Health Risk Pathogenic —
RS2133801342 PCDH15 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2133801703 PCDH15 Health Risk Pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2133805364 KCNC1 Health Risk Pathogenic/Likely pathogenic Progressive myoclonic epilepsy type 7, Seizure
RS2133808393 SLC6A5 Health Risk Likely pathogenic Hyperekplexia 3, Hyperekplexia 3
RS2133808512 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2133809394 SLC6A5 Health Risk Pathogenic Hyperekplexia 3, Hyperekplexia 3
RS2133812056 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2133817680 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1F
RS2133818115 PCDH15 Health Risk Pathogenic —
RS2133818635 PCDH15 Health Risk Pathogenic —
RS2133819352 SLC6A5 Health Risk Likely pathogenic Hyperekplexia 3, Hyperekplexia 3
RS2133823028 FGFR2 Health Risk Likely pathogenic Bilateral sensorineural hearing impairment, Bilateral sensorineural hearing impairment
RS2133823607 PAX2 Health Risk Pathogenic —
RS2133825383 UROS Health Risk Pathogenic —
RS2133825396 FGFR2 Health Risk Pathogenic FGFR2-related craniosynostosis, Pfeiffer syndrome
RS2133833948 PAX2 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 7, Focal segmental glomerulosclerosis 7
RS2133833987 PAX2 Health Risk Likely pathogenic PAX2-related disorder, PAX2-related disorder
RS2133834027 PAX2 Health Risk Likely pathogenic Renal coloboma syndrome, Renal coloboma syndrome
RS2133835239 FGFR2 Health Risk Likely pathogenic Acrocephalosyndactyly type I, Acrocephalosyndactyly type I
RS2133836340 PAX2 Health Risk Pathogenic/Likely pathogenic Renal coloboma syndrome, Focal segmental glomerulosclerosis 7
RS2133836347 PAX2 Health Risk Pathogenic Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome
RS2133836464 PAX2 Health Risk Likely pathogenic —
RS2133845071 UROS Health Risk Pathogenic —
RS2133847468 PNPLA2 Health Risk Pathogenic Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS2133849513 PNPLA2 Health Risk Pathogenic/Likely pathogenic Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS2133849618 PNPLA2 Health Risk Pathogenic Neutral lipid storage myopathy, Neutral lipid storage myopathy
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