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
RS1827526425 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS1827556397 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1827563088 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2
RS182756889 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS182759221 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 15, Bardet-Biedl syndrome
RS1827595485 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1827604419 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS182760732 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, GLDC-related disorder
RS1827630265 HSD17B3 Health Risk Likely pathogenic —
RS182763805 KRIT1 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulas
RS1827646107 TMC1 Health Risk Pathogenic —
RS1827646767 TGFBR1 Health Risk Likely pathogenic Loeys-Dietz syndrome 1, Loeys-Dietz syndrome 1
RS1827646865 FBP1 Health Risk Conflicting classifications of pathogenicity Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS1827647083 TGFBR1 Health Risk Likely pathogenic Loeys-Dietz syndrome 1, Loeys-Dietz syndrome 1
RS1827647395 TGFBR1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1827683037 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS1827683274 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS182768779 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1827707651 COL27A1 Health Risk Pathogenic —
RS1827734095 ASPH Health Risk Pathogenic —
RS1827743139 TGFBR1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1827757538 FBP1 Health Risk Pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS1827764134 ELP1 Health Risk Likely pathogenic —
RS1827767235 ELP1 Health Risk Pathogenic/Likely pathogenic Medulloblastoma, Familial dysautonomia
RS182776939 ACP5 Health Risk Conflicting classifications of pathogenicity Spondyloenchondrodysplasia with immune dysregulation, Inborn genetic diseases
RS1827772289 ELP1 Health Risk Pathogenic —
RS182778119 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1827788039 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1827795601 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS182779591 SERPING1 Health Risk Conflicting classifications of pathogenicity Hereditary angioedema type 1, SERPING1-related disorder
RS1827798347 ELP1 Health Risk Pathogenic —
RS1827799094 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS182780299 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS1827804297 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS1827815076 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS182782193 XPC Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group C
RS1827827098 SLC44A1 Health Risk Pathogenic —
RS1827833554 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1827833640 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS1827842344 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS182784793 SGCB Health Risk Conflicting classifications of pathogenicity Qualitative or quantitative defects of beta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS1827852857 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Baller-Gerold syndrome
RS1827861920 SYK Health Risk Likely pathogenic Decreased circulating immunoglobulin concentration, Arthritis
RS1827867580 NPR2 Health Risk Pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS1827899415 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1
RS1827902114 TGFBR1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS182791237 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg
RS1827914094 SFTPC Health Risk Conflicting classifications of pathogenicity Surfactant metabolism dysfunction, pulmonary
RS182793773 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS1827938831 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS182795390 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, Kleefstra syndrome 2
RS1827970204 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS182798205 NAGA Health Risk Pathogenic Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1
RS1827984690 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1827984994 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1828019195 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS182803063 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS1828084287 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS1828085910 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1828089061 NPR2 Health Risk Likely pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS1828094222 NPR2 Health Risk Pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS1828106198 NPR2 Health Risk Pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS1828107536 NPR2 Health Risk Pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS1828113460 PSAT1 Health Risk Likely pathogenic PSAT deficiency, PSAT deficiency
RS1828116163 TRPM6 Health Risk Likely pathogenic —
RS182811621 DARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS1828117923 NPR2 Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 1, Maroteaux type
RS182812191 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS182812551 P4HTM Health Risk Pathogenic Hypotonia, hypoventilation
RS182812968 SMPD1 Health Risk Likely pathogenic Sphingomyelin/cholesterol lipidosis, Niemann-Pick disease
RS182813211 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, WRN-related disorder
RS182816010 TRIOBP Health Risk Conflicting classifications of pathogenicity —
RS1828184824 PSAT1 Health Risk Pathogenic Neu-Laxova syndrome 2, Neu-Laxova syndrome 2
RS1828199038 NPR2 Health Risk Likely pathogenic Short stature, Short stature
RS182820275 SP7 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 12, Osteogenesis imperfecta type 12
RS182820353 AKR1D1 Health Risk Pathogenic/Likely pathogenic Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2
RS1828216198 PSAT1 Health Risk Likely pathogenic Neu-Laxova syndrome 2, Neu-Laxova syndrome 2
RS1828218629 SLC44A1 Health Risk Pathogenic Neurodegeneration, childhood-onset
RS1828226013 NPR2 Health Risk Pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS1828239449 ELP1 Health Risk Pathogenic —
RS182826539 GPD1L Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS1828278868 TMC1 Health Risk Likely pathogenic Hearing loss, autosomal recessive
RS1828323093 ELP1 Health Risk Pathogenic —
RS1828356952 NPR2 Health Risk Pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS1828368702 NPR2 Health Risk Likely pathogenic Tall stature-scoliosis-macrodactyly of the great toes syndrome, Intellectual disability
RS182841147 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS182845040 CDK13 Health Risk Conflicting classifications of pathogenicity Congenital heart defects, dysmorphic facial features
RS182845462 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS1828459412 BMP1 Health Risk Likely pathogenic Osteogenesis imperfecta type 13, Osteogenesis imperfecta
RS1828471609 VPS13A Health Risk Pathogenic —
RS182847302 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1828477244 FKTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1X, Walker-Warburg congenital muscular dystrophy
RS182849552 RAB27A Health Risk Conflicting classifications of pathogenicity Griscelli syndrome type 2, Autoinflammatory syndrome
RS1828502810 GNE Health Risk Pathogenic —
RS182850530 MMP2 Health Risk Conflicting classifications of pathogenicity Multicentric osteolysis nodulosis arthropathy spectrum, Multicentric osteolysis nodulosis arthropathy spectrum
RS182851622 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS1828551795 ELP1 Health Risk Likely pathogenic ELP1-Associated Medulloblastoma, ELP1-Associated Medulloblastoma
RS1828552155 ELP1 Health Risk Pathogenic —
RS1828552847 APTX Health Risk Conflicting classifications of pathogenicity Ataxia, early-onset
RS1828556135 ELP1 Health Risk Pathogenic —
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