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
RS397509274 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397509275 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS397509277 BRCA1 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS397509278 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397509279 BRCA1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS397509283 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS397509284 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397509286 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS397509287 BRCA1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Breast-ovarian cancer
RS397509288 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397509291 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS397509294 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397509295 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS397509296 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397509297 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397509298 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS397509299 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397509303 BRCA1 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS397509304 BRCA1 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS397509306 BRCA1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary breast ovarian cancer syndrome
RS397509308 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397509309 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397509310 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397509311 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397509312 BRCA1 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS397509314 BRCA1 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS397509318 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS397509319 BRCA1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS397509321 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS397509322 BRCA1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS397509326 BRCA1 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS397509330 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS397509331 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS397509332 BRCA1 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS397509333 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397509334 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397509335 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397509336 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397509337 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397509338 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS397509339 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397509340 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397509341 BRCA1 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS397509343 BRAF Health Risk Pathogenic Noonan syndrome and Noonan-related syndrome, Noonan syndrome
RS397509344 PTPN11 Health Risk Conflicting classifications of pathogenicity LEOPARD syndrome 1, PTPN11-related disorder
RS397509345 PTPN11 Health Risk Pathogenic RASopathy, RASopathy
RS397509360 HOGA1 Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria type 3, HOGA1-related disorder
RS397509361 MMADHC Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblD, Isolated methylmalonic aciduria cblD type
RS397509362 MMADHC Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblD, Isolated methylmalonic aciduria cblD type
RS397509363 MMADHC Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS397509364 MMADHC Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS397509365 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS397509366 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS397509367 CYP21A2 Health Risk Pathogenic/Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS397509369 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS397509370 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS397509371 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS397509372 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS397509373 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS397509374 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS397509375 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS397509376 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS397509377 COL3A1 Health Risk Pathogenic Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
RS397509379 LRIT3 Health Risk Pathogenic Congenital stationary night blindness 1F, Congenital stationary night blindness 1F
RS397509380 LRIT3 Health Risk Pathogenic Congenital stationary night blindness 1F, Congenital stationary night blindness 1F
RS397509381 PDGFRB Health Risk Pathogenic Basal ganglia calcification, idiopathic
RS397509383 FKBP10 Health Risk Pathogenic Bruck syndrome 1, Osteogenesis imperfecta type 12
RS397509384 PIK3R1 Health Risk Pathogenic Agammaglobulinemia 7, autosomal recessive
RS397509385 POMK Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS397509386 POMK Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS397509387 STAMBP Health Risk Likely pathogenic Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome
RS397509388 STAMBP Health Risk Pathogenic/Likely pathogenic Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome
RS397509389 STAMBP Health Risk Pathogenic/Likely pathogenic Microcephaly-capillary malformation syndrome, Ovarian serous cystadenocarcinoma
RS397509390 STAMBP Health Risk Pathogenic/Likely pathogenic Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome
RS397509391 DNMT1 Health Risk Likely pathogenic Autosomal dominant cerebellar ataxia, deafness and narcolepsy
RS397509392 DNMT1 Health Risk Pathogenic Autosomal dominant cerebellar ataxia, deafness and narcolepsy
RS397509393 DNMT1 Health Risk Likely pathogenic Autosomal dominant cerebellar ataxia, deafness and narcolepsy
RS397509394 FIG4 Health Risk Conflicting classifications of pathogenicity Yunis-Varon syndrome, Yunis-Varon syndrome
RS397509395 FIG4 Health Risk Conflicting classifications of pathogenicity Yunis-Varon syndrome, Amyotrophic lateral sclerosis
RS397509396 B4GAT1 Health Risk Likely pathogenic —
RS397509397 B4GAT1 Health Risk Likely pathogenic —
RS397509398 DOCK6 Health Risk Pathogenic Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS397509399 DOCK6 Health Risk Pathogenic Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS397509400 ERCC4 Health Risk Pathogenic Fanconi anemia complementation group Q, Precursor B-cell acute lymphoblastic leukemia
RS397509401 ERCC4 Health Risk Likely pathogenic Fanconi anemia complementation group Q, Xeroderma pigmentosum
RS397509402 ERCC4 Health Risk Pathogenic Fanconi anemia complementation group Q, Fanconi anemia complementation group Q
RS397509403 ERCC4 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, type F/Cockayne syndrome
RS397509404 ERCC4 Health Risk Pathogenic Xeroderma pigmentosum, type F/Cockayne syndrome
RS397509405 SMARCE1 Health Risk Pathogenic Familial meningioma, Hereditary cancer-predisposing syndrome
RS397509406 SMARCE1 Health Risk risk factor Familial meningioma, Familial meningioma
RS397509407 SMARCE1 Health Risk Likely pathogenic Familial meningioma, Familial meningioma
RS397509408 SMARCE1 Health Risk risk factor Familial meningioma, Familial meningioma
RS397509410 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 13
RS397509411 DYNC1H1 Health Risk Pathogenic Intellectual disability, autosomal dominant 13
RS397509412 DYNC1H1 Health Risk Pathogenic Intellectual disability, autosomal dominant 13
RS397509413 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS397509414 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS397509415 ASAH1 Health Risk Pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS397509416 SMAD2 Health Risk Pathogenic Congenital heart defects, multiple types
RS397509417 TRAPPC11 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Muscular dystrophy
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