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
RS2040091643 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040091746 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040091881 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2040092247 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2040092520 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2040093330 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2040094645 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040094761 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2040109939 FBRSL1 Health Risk Likely pathogenic Moyamoya angiopathy, Moyamoya angiopathy
RS2040109989 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040110823 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040110878 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2040111171 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS2040115763 CNOT1 Health Risk Conflicting classifications of pathogenicity —
RS2040132006 TRIM37 Health Risk Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS2040150416 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2040152185 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2040152678 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2040184914 DCC Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS2040187118 ZFYVE26 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2040187420 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS2040191088 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS2040215627 SMARCD2 Health Risk Pathogenic —
RS2040215878 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2040217313 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2040229450 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040231133 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040232900 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040234338 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040253304 SMARCD2 Health Risk Pathogenic —
RS2040265772 SETD5 Health Risk Pathogenic —
RS2040273876 OCA2 Health Risk Likely pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS2040278710 PCYT2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia 82, autosomal recessive
RS2040280183 SMARCD2 Health Risk Likely pathogenic Specific granule deficiency 2, Specific granule deficiency 2
RS2040286240 CNOT1 Health Risk Likely pathogenic Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4
RS2040291471 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS2040303197 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2040335386 TREX1 Health Risk Pathogenic Aicardi-Goutieres syndrome 1, Aicardi-Goutieres syndrome 1
RS2040346100 TREX1 Health Risk Pathogenic Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RS2040352785 FANCA Health Risk Pathogenic —
RS2040352832 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2040352874 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2040356109 TREX1 Health Risk Pathogenic Aicardi-Goutieres syndrome 1, Chilblain lupus 1
RS2040365404 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2040366519 OGT Health Risk Likely pathogenic —
RS2040369776 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040370171 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS2040370883 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040371663 CEP290 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2040371763 CEP290 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Joubert syndrome
RS2040372065 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040373653 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2040385695 TREX1 Health Risk Pathogenic Systemic lupus erythematosus, Systemic lupus erythematosus
RS2040417979 GREB1L Health Risk Likely pathogenic Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3
RS2040425342 IFT140 Health Risk Pathogenic/Likely pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS2040458488 PSMG2 Health Risk Pathogenic Proteasome-associated autoinflammatory syndrome 4, Proteasome-associated autoinflammatory syndrome 4
RS2040460653 SLX4 Health Risk Likely pathogenic Fanconi anemia complementation group P, Fanconi anemia complementation group P
RS2040477031 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2040479235 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS2040485564 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS2040485608 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2040486497 ELAC2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS2040495130 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS2040496521 CEP290 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2040496802 CEP290 Health Risk Pathogenic —
RS2040497202 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Joubert syndrome
RS2040498071 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2040502869 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2040518119 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2040520107 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Squamous cell carcinoma of the head and neck
RS2040520715 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040523467 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040523640 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2040524006 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040534254 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS2040536458 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2040540029 SLX4 Health Risk Pathogenic Fanconi anemia complementation group P, Fanconi anemia complementation group P
RS2040549725 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2040550139 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2040556390 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2040557100 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2040557375 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2040560523 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2040561088 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2040561421 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS2040576760 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS2040580445 GCH1 Health Risk Pathogenic Dystonia 5, GTP cyclohydrolase I deficiency
RS2040580523 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2040599000 CNOT1 Health Risk Pathogenic Vissers-Bodmer syndrome, Vissers-Bodmer syndrome
RS2040599267 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2040601073 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040602804 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2040608439 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2040608924 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2040631802 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS2040637111 CEP290 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS2040642702 SLX4 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2040643241 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2040644607 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2040644756 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Joubert syndrome
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