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
RS398124347 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS398124348 ALG1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Congenital disorder of glycosylation
RS398124349 ALG1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS398124350 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS398124351 MCCC1 Health Risk Likely pathogenic —
RS398124352 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, MCCC1-related disorder
RS398124353 MCCC1 Health Risk Conflicting classifications of pathogenicity —
RS398124354 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis 6
RS398124355 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS398124356 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS398124358 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 17, Cardiovascular phenotype
RS398124359 SELENON Health Risk Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy, SEPN1-related disorder
RS398124360 SELENON Health Risk Pathogenic —
RS398124365 NLGN4X Health Risk Conflicting classifications of pathogenicity NLGN4X-related disorder, NLGN4X-related disorder
RS398124367 NLGN4X Health Risk Conflicting classifications of pathogenicity —
RS398124369 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS398124372 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS398124373 NSD1 Health Risk Conflicting classifications of pathogenicity —
RS398124374 NSD1 Health Risk Pathogenic —
RS398124378 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS398124379 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS398124380 NSD1 Health Risk Conflicting classifications of pathogenicity See cases, Sotos syndrome
RS398124381 NSD1 Health Risk Pathogenic Squamous cell carcinoma of the head and neck, Squamous cell carcinoma of the head and neck
RS398124382 NSD1 Health Risk Likely pathogenic —
RS398124383 NSD1 Health Risk Pathogenic —
RS398124385 NSD1 Health Risk Conflicting classifications of pathogenicity —
RS398124386 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Inborn genetic diseases
RS398124388 NSD1 Health Risk Conflicting classifications of pathogenicity —
RS398124391 ALG8 Health Risk Pathogenic ALG8 congenital disorder of glycosylation, ALG8 congenital disorder of glycosylation
RS398124394 FKRP Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy
RS398124395 FKRP Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy
RS398124396 GNPTAB Health Risk Pathogenic —
RS398124397 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS398124398 GNPTAB Health Risk Pathogenic —
RS398124400 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS398124401 SRD5A3 Health Risk Pathogenic SRD5A3-congenital disorder of glycosylation, Congenital disorder of glycosylation
RS398124402 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS398124403 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS398124404 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS398124405 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS398124406 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS398124407 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS398124408 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS398124414 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS398124415 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, Inborn genetic diseases
RS398124416 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, RAI1-related disorder
RS398124419 RAI1 Health Risk Pathogenic —
RS398124425 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS398124428 PHF6 Health Risk Pathogenic —
RS398124429 FOXP1 Health Risk Pathogenic —
RS398124431 RAX2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS398124432 BBS4 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS4-related disorder
RS398124433 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Usher syndrome type 1F
RS398124434 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS398124435 MEN1 Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 1
RS398124437 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS398124438 UBE3A Health Risk Pathogenic —
RS398124440 UBE3A Health Risk Pathogenic/Likely pathogenic Angelman syndrome, Angelman syndrome
RS398124442 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS398124445 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS398124447 TTN Health Risk Conflicting classifications of pathogenicity —
RS398124448 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS398124449 TTN Health Risk Conflicting classifications of pathogenicity TTN-related disorder, TTN-related disorder
RS398124450 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS398124455 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS398124463 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS398124465 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS398124466 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, NIPBL-related disorder
RS398124467 NIPBL Health Risk Pathogenic —
RS398124470 NIPBL Health Risk Pathogenic —
RS398124471 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS398124472 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS398124473 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS398124474 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS398124475 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS398124476 PKHD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS398124477 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS398124478 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS398124479 PKHD1 Health Risk Pathogenic —
RS398124480 PKHD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS398124481 PKHD1 Health Risk Pathogenic —
RS398124483 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal dominant polycystic liver disease
RS398124484 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS398124485 PKHD1 Health Risk Pathogenic —
RS398124486 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS398124487 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS398124491 PKHD1 Health Risk Likely pathogenic —
RS398124492 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS398124495 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS398124496 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS398124497 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS398124498 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS398124500 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS398124501 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS398124502 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS398124503 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS398124506 ARX Health Risk Pathogenic —
RS398124507 ARX Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked
RS398124508 ARX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS398124510 ARX Health Risk Pathogenic X-linked lissencephaly with abnormal genitalia, Developmental and epileptic encephalopathy
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