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
RS386134241 IKBKG Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia and immunodeficiency 1, Ectodermal dysplasia and immunodeficiency 1
RS386134243 LMNA Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS386134245 MEN1 Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 1
RS386134246 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS386134247 MEN1 Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 1
RS386134249 MEN1 Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 1
RS386134250 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS386134251 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS386134253 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS386134254 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS386134255 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS386134256 MEN1 Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 1
RS386134258 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS386134259 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS386134260 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS386134261 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS386134262 NR0B1 Health Risk Likely pathogenic Congenital adrenal hypoplasia, X-linked
RS386134263 NR0B1 Health Risk Pathogenic/Likely pathogenic Congenital adrenal hypoplasia, X-linked
RS386134267 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS386134269 TTR Health Risk Conflicting classifications of pathogenicity Amyloidosis, hereditary systemic 1
RS386134270 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS386134271 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS386352291 CPAP Health Risk Pathogenic —
RS386352318 KCNJ5 Health Risk Likely pathogenic —
RS386352319 KCNJ5 Health Risk Likely pathogenic Aldosterone-producing adrenal adenoma, somatic
RS386352352 PRKACA Health Risk Pathogenic/Likely pathogenic Pigmented nodular adrenocortical disease, primary
RS386628081 PLEKHG5 Health Risk Conflicting classifications of pathogenicity —
RS386629678 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS386653129 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS386654966 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS386692223 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS386699797 TAP2 Health Risk Conflicting classifications of pathogenicity MHC class I deficiency, MHC class I deficiency
RS386707192 SYNE1 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Autosomal recessive ataxia
RS386716957 PPP1R3A Health Risk association GLYCEMIA VARIATION, GLYCEMIA VARIATION
RS386742210 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Thrombocytopenia 2
RS386743165 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS386789728 CRYM Health Risk Conflicting classifications of pathogenicity —
RS386802145 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS386833394 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS386833397 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS386833402 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS386833403 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS386833406 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS386833412 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS386833416 TRIM37 Health Risk Pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS386833417 AGA Health Risk Pathogenic/Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS386833418 AGA Health Risk Pathogenic/Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS386833419 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS386833420 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS386833421 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS386833422 AGA Health Risk Pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS386833423 AGA Health Risk Pathogenic/Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS386833424 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS386833425 AGA Health Risk Pathogenic/Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS386833426 AGA Health Risk Pathogenic/Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS386833427 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS386833429 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS386833430 AGA Health Risk Pathogenic/Likely pathogenic Aspartylglucosaminuria, Inborn genetic diseases
RS386833431 AGA Health Risk Pathogenic/Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS386833432 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS386833433 AGA Health Risk Pathogenic/Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS386833434 AGA Health Risk Conflicting classifications of pathogenicity Aspartylglucosaminuria, Aspartylglucosaminuria
RS386833435 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS386833436 AGA Health Risk Pathogenic Aspartylglucosaminuria, Inborn genetic diseases
RS386833437 AGA Health Risk Pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS386833439 CSTB Health Risk Likely pathogenic Unverricht-Lundborg syndrome, Unverricht-Lundborg syndrome
RS386833440 CSTB Health Risk Likely pathogenic Unverricht-Lundborg syndrome, Glioma susceptibility 1
RS386833441 CSTB Health Risk Likely pathogenic Unverricht-Lundborg syndrome, Unverricht-Lundborg syndrome
RS386833443 CSTB Health Risk Likely pathogenic Unverricht-Lundborg syndrome, Unverricht-Lundborg syndrome
RS386833444 SLC26A3 Health Risk Likely pathogenic Congenital secretory diarrhea, chloride type
RS386833445 SLC26A3 Health Risk Likely pathogenic Congenital secretory diarrhea, chloride type
RS386833447 SLC26A3 Health Risk Pathogenic Congenital secretory diarrhea, chloride type
RS386833448 SLC26A3 Health Risk Pathogenic Congenital secretory diarrhea, chloride type
RS386833449 SLC26A3 Health Risk Pathogenic/Likely pathogenic Congenital secretory diarrhea, chloride type
RS386833450 SLC26A3 Health Risk Likely pathogenic Congenital secretory diarrhea, chloride type
RS386833451 SLC26A3 Health Risk Likely pathogenic Congenital secretory diarrhea, chloride type
RS386833452 SLC26A3 Health Risk Likely pathogenic Congenital secretory diarrhea, chloride type
RS386833453 SLC26A3 Health Risk Pathogenic Congenital secretory diarrhea, chloride type
RS386833454 SLC26A3 Health Risk Likely pathogenic Congenital secretory diarrhea, chloride type
RS386833455 SLC26A3 Health Risk Likely pathogenic Congenital secretory diarrhea, chloride type
RS386833456 SLC26A3 Health Risk Pathogenic/Likely pathogenic Congenital secretory diarrhea, chloride type
RS386833457 SLC26A3 Health Risk Likely pathogenic Congenital secretory diarrhea, chloride type
RS386833458 SLC26A3 Health Risk Likely pathogenic Congenital secretory diarrhea, chloride type
RS386833459 SLC26A3 Health Risk Likely pathogenic Congenital secretory diarrhea, chloride type
RS386833460 SLC26A3 Health Risk Likely pathogenic Congenital secretory diarrhea, chloride type
RS386833461 SLC26A3 Health Risk Likely pathogenic Congenital secretory diarrhea, chloride type
RS386833462 SLC26A3 Health Risk Conflicting classifications of pathogenicity Congenital secretory diarrhea, chloride type
RS386833463 SLC26A3 Health Risk Likely pathogenic Congenital secretory diarrhea, chloride type
RS386833465 SLC26A3 Health Risk Pathogenic Congenital secretory diarrhea, chloride type
RS386833466 SLC26A3 Health Risk Likely pathogenic Congenital secretory diarrhea, chloride type
RS386833467 SLC26A3 Health Risk Pathogenic/Likely pathogenic Congenital secretory diarrhea, chloride type
RS386833468 SLC26A3 Health Risk Pathogenic Congenital secretory diarrhea, chloride type
RS386833469 SLC26A3 Health Risk Likely pathogenic Congenital secretory diarrhea, chloride type
RS386833471 SLC26A3 Health Risk Pathogenic Congenital secretory diarrhea, chloride type
RS386833472 SLC26A3 Health Risk Likely pathogenic Congenital secretory diarrhea, chloride type
RS386833473 SLC26A3 Health Risk Pathogenic Congenital secretory diarrhea, chloride type
RS386833474 SLC26A3 Health Risk Likely pathogenic Congenital secretory diarrhea, chloride type
RS386833475 SLC26A3 Health Risk Likely pathogenic Congenital secretory diarrhea, chloride type
RS386833476 SLC26A3 Health Risk Pathogenic Congenital secretory diarrhea, chloride type
RS386833477 SLC26A3 Health Risk Pathogenic Congenital secretory diarrhea, chloride type
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