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
RS2536888088 TRPS1 Health Risk Likely pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS2536888237 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2536888411 TMEM67 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2536888603 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2536888816 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2536890328 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2536890438 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS2536890739 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2536890849 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS2536891347 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2536891407 TRPS1 Health Risk Likely pathogenic TRPS1-related disorder, TRPS1-related disorder
RS2536891736 FGFR1 Health Risk Pathogenic Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2536893785 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS2536894969 GRHL2 Health Risk Likely pathogenic GRHL2-related disorder, GRHL2-related disorder
RS2536894997 GRHL2 Health Risk Pathogenic —
RS2536896446 TMEM67 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2536896644 TMEM67 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2536896797 TMEM67 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2536899211 TMEM67 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2536903110 TMEM67 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2536904331 TMEM67 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2536904460 TMEM67 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2536912033 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2536912345 TMEM67 Health Risk Pathogenic Joubert syndrome 6, Joubert syndrome 6
RS2536913760 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS2536914014 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2536914279 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS2536914781 FGFR1 Health Risk Pathogenic Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2536915201 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2536916470 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2536921416 KCNQ3 Health Risk Likely pathogenic Benign neonatal seizures, Benign neonatal seizures
RS2536923923 TMEM67 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2536926049 SBDS Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2536926716 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2536928013 SBDS Health Risk Pathogenic Shwachman-Diamond syndrome 1, Shwachman-Diamond syndrome 1
RS2536928420 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2536928737 SBDS Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS2536929338 TMEM67 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2536929958 TMEM67 Health Risk Pathogenic/Likely pathogenic Joubert syndrome and related disorders, Meckel-Gruber syndrome
RS2536930168 SBDS Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS2536930205 SBDS Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS2536930338 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2536932319 SBDS Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS2536932390 SBDS Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS2536932418 SBDS Health Risk Pathogenic Aplastic anemia, Shwachman-Diamond syndrome 1
RS2536932431 SBDS Health Risk Pathogenic Shwachman-Diamond syndrome 1, Shwachman-Diamond syndrome 1
RS2536941528 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Benign neonatal seizures
RS2536943817 KCNQ3 Health Risk Likely pathogenic Seizure, Seizure
RS2536943945 KCNQ3 Health Risk Pathogenic Benign neonatal seizures, Benign neonatal seizures
RS2536947549 CSNK2B Health Risk Pathogenic —
RS2536947667 CSNK2B Health Risk Pathogenic —
RS2536947862 CSNK2B Health Risk Pathogenic —
RS2536948872 DST Health Risk Likely pathogenic Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS2536952207 KCNQ3 Health Risk Likely pathogenic Benign neonatal seizures, Benign neonatal seizures
RS2536952593 KCNQ3 Health Risk Pathogenic Benign neonatal seizures, Benign neonatal seizures
RS2536957931 CSNK2B Health Risk Pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS2536957939 CSNK2B Health Risk Likely pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS2536958296 LY6G5B Health Risk Likely pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS2536958403 CSNK2B Health Risk Pathogenic/Likely pathogenic CSNK2B-related disorder, Poirier-Bienvenu neurodevelopmental syndrome
RS2536962628 CSNK2B Health Risk Pathogenic —
RS2536962966 GRHL2 Health Risk Likely pathogenic —
RS2536963135 CSNK2B Health Risk Pathogenic —
RS2536963193 CSNK2B Health Risk Likely pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS2536965692 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2536966052 CSNK2B Health Risk Pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS2536966071 CSNK2B Health Risk Pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS2536966124 CSNK2B Health Risk Conflicting classifications of pathogenicity Poirier-Bienvenu neurodevelopmental syndrome, Inborn genetic diseases
RS2536967534 CSNK2B Health Risk Pathogenic —
RS2536967665 CSNK2B Health Risk Pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS2536967921 CSNK2B Health Risk Pathogenic/Likely pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Inborn genetic diseases
RS2536968042 CSNK2B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2536968043 TMEM67 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2536970927 CSNK2B Health Risk Conflicting classifications of pathogenicity Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS2536971072 CSNK2B Health Risk Likely pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS2536972468 KCNV2 Health Risk Pathogenic —
RS2536972479 KCNV2 Health Risk Pathogenic —
RS2536973791 KCNV2 Health Risk Pathogenic —
RS2537009025 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2537009990 EYA1 Health Risk Likely pathogenic Branchiootorenal syndrome 1, Branchiootorenal syndrome 1
RS2537010153 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS2537010834 EYA1 Health Risk Pathogenic Branchiootorenal syndrome 1, Branchiootorenal syndrome 1
RS2537011164 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2537012229 EYA1 Health Risk Likely pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS2537012799 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2537013005 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2537013459 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2537014883 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2537017106 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS2537017451 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS2537018716 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS2537019323 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2537020226 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2537032583 EZH2 Health Risk Likely pathogenic EZH2-related disorder, EZH2-related disorder
RS2537038799 DST Health Risk Pathogenic Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS2537060641 EYA1 Health Risk Pathogenic Branchiootic syndrome 1, Branchiootic syndrome 1
RS2537075380 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2537101266 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2537101394 DST Health Risk Pathogenic Inborn genetic diseases, Epidermolysis bullosa simplex 3
RS2537101947 FGFR1 Health Risk Pathogenic Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2537130353 WDR91 Health Risk Pathogenic —
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