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
RS2548605435 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS2548609966 CPLANE1 Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS2548610961 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS2548611381 DMXL2 Health Risk Pathogenic —
RS2548614097 MMAB Health Risk Likely pathogenic Methylmalonic aciduria, cblB type
RS2548614128 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS2548614137 MMAB Health Risk Likely pathogenic Methylmalonic aciduria, cblB type
RS2548614273 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS2548614345 DMXL2 Health Risk Pathogenic —
RS2548614401 MMAB Health Risk Likely pathogenic Methylmalonic aciduria, cblB type
RS2548615108 NALCN Health Risk Likely pathogenic —
RS2548616797 MVK Health Risk Pathogenic Porokeratosis 3, disseminated superficial actinic type
RS2548617770 MNS1 Health Risk Pathogenic Heterotaxy, visceral
RS2548618895 MVK Health Risk Pathogenic Porokeratosis 3, disseminated superficial actinic type
RS2548623411 MVK Health Risk Likely pathogenic —
RS2548623624 MVK Health Risk Pathogenic Porokeratosis 3, disseminated superficial actinic type
RS2548625240 MVK Health Risk Pathogenic Mevalonic aciduria, Porokeratosis 3
RS2548625278 MVK Health Risk Pathogenic Porokeratosis 3, disseminated superficial actinic type
RS2548625552 MVK Health Risk Pathogenic Porokeratosis 3, disseminated superficial actinic type
RS2548630725 MVK Health Risk Pathogenic Porokeratosis 3, disseminated superficial actinic type
RS2548630750 MVK Health Risk Pathogenic Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever
RS2548631795 MVK Health Risk Likely pathogenic Mevalonic aciduria, Porokeratosis 3
RS2548631897 MVK Health Risk Pathogenic Porokeratosis 3, disseminated superficial actinic type
RS2548631903 MVK Health Risk Pathogenic Porokeratosis 3, disseminated superficial actinic type
RS2548631938 MVK Health Risk Pathogenic Mevalonic aciduria, Porokeratosis 3
RS2548631951 MVK Health Risk Likely pathogenic Porokeratosis 3, disseminated superficial actinic type
RS2548635761 RUNX2 Health Risk Pathogenic —
RS2548635868 RUNX2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2548635895 RUNX2 Health Risk Pathogenic —
RS2548635907 RUNX2 Health Risk Pathogenic —
RS2548635911 RUNX2 Health Risk Pathogenic —
RS2548635916 RUNX2 Health Risk Likely pathogenic RUNX2-related disorder, RUNX2-related disorder
RS2548641225 MVK Health Risk Conflicting classifications of pathogenicity —
RS2548642688 DMXL2 Health Risk Pathogenic —
RS2548642794 MVK Health Risk Pathogenic Mevalonic aciduria, Porokeratosis 3
RS2548642823 MVK Health Risk Pathogenic Mevalonic aciduria, Porokeratosis 3
RS2548642861 MVK Health Risk Pathogenic Mevalonic aciduria, Porokeratosis 3
RS2548650303 RUNX2 Health Risk Pathogenic —
RS2548650306 RUNX2 Health Risk Pathogenic —
RS2548650318 RUNX2 Health Risk Pathogenic —
RS2548650342 RUNX2 Health Risk Pathogenic RUNX2-related disorder, RUNX2-related disorder
RS2548650498 RUNX2 Health Risk Likely pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS2548658834 EPB41 Health Risk Likely pathogenic Elliptocytosis 1, Elliptocytosis 1
RS2548660142 EPB41 Health Risk Pathogenic Elliptocytosis 1, Elliptocytosis 1
RS2548670726 OCA2 Health Risk Likely pathogenic —
RS2548670988 OCA2 Health Risk Pathogenic —
RS2548671260 OCA2 Health Risk Pathogenic/Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS2548671431 OCA2 Health Risk Pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS2548672995 OCA2 Health Risk Pathogenic —
RS2548676658 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2548676740 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2548676923 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2548677635 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2548696339 AP3B2 Health Risk Pathogenic —
RS2548697395 AP3B2 Health Risk Likely pathogenic —
RS2548698003 AP3B2 Health Risk Pathogenic —
RS2548698032 AP3B2 Health Risk Pathogenic —
RS2548699221 AP3B2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 48
RS2548703107 DMXL2 Health Risk Likely pathogenic —
RS2548705861 DMXL2 Health Risk Pathogenic —
RS2548707698 CACNA1H Health Risk Pathogenic Idiopathic generalized epilepsy, Hyperaldosteronism
RS2548708646 AP3B2 Health Risk Pathogenic —
RS2548711412 AP3B2 Health Risk Pathogenic —
RS2548711451 AP3B2 Health Risk Pathogenic —
RS2548711951 AP3B2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 48
RS2548712141 AP3B2 Health Risk Pathogenic —
RS2548717189 TRPV4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C
RS2548718084 TRPV4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Scapuloperoneal spinal muscular atrophy
RS2548718983 AP3B2 Health Risk Likely pathogenic —
RS2548728770 TRPV4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C
RS2548744790 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2548745030 PCDH15 Health Risk Pathogenic —
RS2548745534 DMXL2 Health Risk Conflicting classifications of pathogenicity —
RS2548754386 TCTN1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2548767534 TRPV4 Health Risk Likely pathogenic Metatropic dysplasia, Metatropic dysplasia
RS2548769622 ADAMTS17 Health Risk Likely pathogenic —
RS2548779642 MYCBP2 Health Risk Likely pathogenic —
RS2548785784 LIPC Health Risk Likely pathogenic Abnormal circulating lipid concentration, Abnormal circulating lipid concentration
RS2548786346 WNK1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2548787593 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS2548789633 EML1 Health Risk Likely pathogenic Band heterotopia of brain, Band heterotopia of brain
RS2548793417 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS2548793915 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2548794511 ADAMTS17 Health Risk Pathogenic —
RS2548794622 ADAMTS17 Health Risk Pathogenic —
RS2548796089 TCTN1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2548796140 WNK1 Health Risk Pathogenic Pseudohypoaldosteronism type 2C, Neuropathy
RS2548797919 ADAMTS17 Health Risk Pathogenic —
RS2548798737 WNK1 Health Risk Pathogenic Pseudohypoaldosteronism type 2C, Neuropathy
RS2548800660 WNK1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2548804201 WNK1 Health Risk Pathogenic Pseudohypoaldosteronism type 2C, Neuropathy
RS2548810000 CIB2;SH2D7 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 48, Ovarian serous cystadenocarcinoma
RS2548810898 NCF4 Health Risk Pathogenic Granulomatous disease, chronic
RS2548815311 NFASC Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2548818940 HERC2 Health Risk Likely pathogenic Developmental delay with autism spectrum disorder and gait instability, Developmental delay with autism spectrum disorder and gait instability
RS2548832773 TCTN1 Health Risk Pathogenic Joubert syndrome 13, Joubert syndrome 13
RS2548836529 WNK1 Health Risk Likely pathogenic Neuropathy, hereditary sensory and autonomic
RS2548847433 ADAMTS17 Health Risk Pathogenic —
RS2548854465 SOX5 Health Risk Likely pathogenic Lamb-Shaffer syndrome, Lamb-Shaffer syndrome
RS2548855120 SOX5 Health Risk Likely pathogenic Lamb-Shaffer syndrome, Lamb-Shaffer syndrome
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