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
RS121434474 MT-TH Health Risk Likely pathogenic MERRF/MELAS overlap syndrome, MELAS syndrome
RS121434478 ATIC Health Risk Conflicting classifications of pathogenicity AICA-ribosiduria, See cases
RS121434479 NDUFS7 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 3
RS121434480 HPGD Health Risk Pathogenic Cranioosteoarthropathy, Hypertrophic osteoarthropathy
RS121434481 HPGD Health Risk Likely pathogenic Isolated congenital digital clubbing, Isolated congenital digital clubbing
RS121434482 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS121434483 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS121434484 PAFAH1B1 Health Risk Pathogenic Subcortical band heterotopia, Subcortical band heterotopia
RS121434485 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS121434486 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS121434487 PAFAH1B1 Health Risk Pathogenic/Likely pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS121434488 PAFAH1B1 Health Risk Likely pathogenic Subcortical band heterotopia, Subcortical band heterotopia
RS121434489 PAFAH1B1 Health Risk Pathogenic/Likely pathogenic Lissencephaly due to LIS1 mutation, Subcortical band heterotopia
RS121434490 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS121434491 EFEMP1 Health Risk Pathogenic/Likely pathogenic Doyne honeycomb retinal dystrophy, Retinal dystrophy
RS121434492 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, IL12RB1-related disorder
RS121434493 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS121434494 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS121434495 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS121434496 SMARCB1 Health Risk Pathogenic Schwannomatosis 1, somatic
RS121434497 MAP2K2 Health Risk Pathogenic Cardiofaciocutaneous syndrome 4, Cardio-facio-cutaneous syndrome
RS121434498 MAP2K2 Health Risk Pathogenic/Likely pathogenic Cardiofaciocutaneous syndrome 4, Cardio-facio-cutaneous syndrome
RS121434499 MAP2K2 Health Risk Pathogenic Cardio-facio-cutaneous syndrome, Cardiofaciocutaneous syndrome 4
RS121434500 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 12, Long QT syndrome
RS121434501 CAV1 Health Risk Pathogenic Congenital generalized lipodystrophy type 3, Partial lipodystrophy
RS121434502 RANBP2 Health Risk Pathogenic/Likely pathogenic Familial acute necrotizing encephalopathy, See cases
RS121434503 RANBP2 Health Risk risk factor Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS121434504 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS121434505 FANCE Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS121434506 FANCE Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS121434507 PTPRJ Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS121434508 TMEM126A Health Risk Pathogenic Autosomal recessive optic atrophy, OPA7 type
RS121434511 PNKD Health Risk Pathogenic/Likely pathogenic Paroxysmal nonkinesigenic dyskinesia 1, Paroxysmal dyskinesia
RS121434512 PNKD Health Risk Pathogenic/Likely pathogenic Paroxysmal nonkinesigenic dyskinesia 1, Paroxysmal nonkinesigenic dyskinesia
RS121434513 PNKD Health Risk Conflicting classifications of pathogenicity Paroxysmal nonkinesigenic dyskinesia 1, Paroxysmal nonkinesigenic dyskinesia
RS121434514 KIFBP Health Risk Pathogenic Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
RS121434515 KIFBP Health Risk Pathogenic Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
RS121434516 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS121434517 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi Goutieres syndrome
RS121434518 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS121434519 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Chilblain lupus 2
RS121434520 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS121434522 RNF6 Health Risk Pathogenic Esophageal squamous cell carcinoma, somatic
RS121434523 RNF6 Health Risk Pathogenic Esophageal squamous cell carcinoma, somatic
RS121434524 RNF6 Health Risk Pathogenic Esophageal squamous cell carcinoma, somatic
RS121434525 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary dilated cardiomyopathy
RS121434526 ACTA2 Health Risk Pathogenic Aortic aneurysm, familial thoracic 6
RS121434527 ACTA2 Health Risk Pathogenic/Likely pathogenic Aortic aneurysm, familial thoracic 6
RS121434528 ACTA2 Health Risk Pathogenic Aortic aneurysm, familial thoracic 6
RS121434529 NAGA Health Risk Conflicting classifications of pathogenicity Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency
RS121434530 NAGA Health Risk Likely pathogenic Alpha-N-acetylgalactosaminidase deficiency, Alpha-N-acetylgalactosaminidase deficiency type 2
RS121434531 NAGA Health Risk Pathogenic Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 2
RS121434532 NAGA Health Risk Conflicting classifications of pathogenicity Alpha-N-acetylgalactosaminidase deficiency type 3, Alpha-N-acetylgalactosaminidase deficiency type 1
RS121434533 NAGA Health Risk Conflicting classifications of pathogenicity Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1
RS121434534 CYP19A1 Health Risk Pathogenic Aromatase deficiency, Aromatase deficiency
RS121434536 CYP19A1 Health Risk Pathogenic Aromatase deficiency, Aromatase deficiency
RS121434538 CYP19A1 Health Risk Pathogenic Aromatase deficiency, Aromatase excess syndrome
RS121434542 CDH3 Health Risk Pathogenic Congenital hypotrichosis with juvenile macular dystrophy, Retinal dystrophy
RS121434543 CDH3 Health Risk Pathogenic EEM syndrome, EEM syndrome
RS121434544 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS121434545 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS121434546 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS121434547 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS121434548 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
RS121434549 CASQ2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 2
RS121434550 CASQ2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 2
RS121434552 CA4 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 17, Retinal dystrophy
RS121434553 COL6A3 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1C
RS121434554 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1C
RS121434555 COL6A3 Health Risk Pathogenic Bethlem myopathy 1C, Bethlem myopathy 1C
RS121434558 GJA5 Health Risk Pathogenic Atrial fibrillation, somatic
RS121434559 PPIB Health Risk Pathogenic Osteogenesis imperfecta type 9, Osteogenesis imperfecta type 9
RS121434560 LIG1 Health Risk Pathogenic Immunodeficiency 96, Immunodeficiency 96
RS121434561 LIG1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 96, Immunodeficiency 96
RS121434562 TOP1 Health Risk Pathogenic DNA topoisomerase I, camptothecin-resistant
RS121434563 EGR2 Health Risk Pathogenic Dejerine-sottas neuropathy, autosomal dominant
RS121434564 EPB41 Health Risk Pathogenic Elliptocytosis 1, Elliptocytosis 1
RS121434567 EGF Health Risk Pathogenic Renal hypomagnesemia 4, Renal hypomagnesemia 4
RS121434570 ERCC5 Health Risk Pathogenic Xeroderma pigmentosum, group G
RS121434571 ERCC5 Health Risk Likely pathogenic Xeroderma pigmentosum, group G
RS121434572 ERCC5 Health Risk Pathogenic Xeroderma pigmentosum group G/Cockayne syndrome, Xeroderma pigmentosum group G/Cockayne syndrome
RS121434573 ERCC5 Health Risk Pathogenic Xeroderma pigmentosum group G/Cockayne syndrome, Xeroderma pigmentosum group G/Cockayne syndrome
RS121434574 ERCC5 Health Risk Pathogenic Xeroderma pigmentosum group G/Cockayne syndrome, Xeroderma pigmentosum group G/Cockayne syndrome
RS121434575 ERCC5 Health Risk Pathogenic Xeroderma pigmentosum, group G
RS121434577 ERCC5 Health Risk Pathogenic Xeroderma pigmentosum, group G
RS121434578 ABAT Health Risk Pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS121434579 GABRA1 Health Risk risk factor Epilepsy, idiopathic generalized
RS121434580 GABRD Health Risk risk factor Generalized epilepsy with febrile seizures plus type 5, Generalized epilepsy with febrile seizures plus type 5
RS121434581 SLC2A4 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS121434582 ALDH18A1 Health Risk Conflicting classifications of pathogenicity ALDH18A1-related de Barsy syndrome, Cutis laxa
RS121434583 ALDH18A1 Health Risk Pathogenic ALDH18A1-related de Barsy syndrome, ALDH18A1-related de Barsy syndrome
RS121434584 GYS1 Health Risk Pathogenic Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS121434585 GNAT2 Health Risk Pathogenic Achromatopsia 4, Achromatopsia 4
RS121434587 IGF2R Health Risk Pathogenic Hepatocellular carcinoma, Hepatocellular carcinoma
RS121434588 IGF2R Health Risk Pathogenic Hepatocellular carcinoma, Hepatocellular carcinoma
RS121434589 MYH2 Health Risk Pathogenic Myopathy, proximal
RS121434590 MYH8 Health Risk Pathogenic Hecht syndrome, Carney complex - trismus - pseudocamptodactyly syndrome
RS121434591 MATR3 Health Risk Pathogenic Amyotrophic lateral sclerosis type 21, Amyotrophic lateral sclerosis type 21
RS121434592 AKT1 Health Risk Pathogenic Breast adenocarcinoma, Carcinoma of colon
RS121434593 AKT2 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
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