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
RS114557412 TTC8 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 8
RS114563841 SLC6A3 Health Risk Conflicting classifications of pathogenicity Parkinsonism-dystonia, infantile
RS114566813 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30
RS114569184 SLC26A2 Health Risk Conflicting classifications of pathogenicity Diastrophic dysplasia, Atelosteogenesis type II
RS114570574 TRMT5 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 26, TRMT5-related disorder
RS114575519 AP4E1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS114577182 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS114583297 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS114585486 DHX34 Health Risk Conflicting classifications of pathogenicity DHX34-related disorder, DHX34-related disorder
RS114590091 TUFM Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 4, TUFM-related disorder
RS114591600 ZFP57 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS114595447 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Inborn genetic diseases
RS114595892 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS114596320 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS114599272 EXPH5 Health Risk Conflicting classifications of pathogenicity EXPH5-related disorder, Inborn genetic diseases
RS114603112 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS114605439 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS114610092 CYBA Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS114610541 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, LRBA-related disorder
RS114613744 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS114615449 NPHS1 Health Risk Conflicting classifications of pathogenicity Proteinuria, Finnish congenital nephrotic syndrome
RS114620008 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS114620403 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS114621664 SLC25A10 Health Risk Conflicting classifications of pathogenicity —
RS114621989 DNAH7 Health Risk Conflicting classifications of pathogenicity Abdominal situs inversus, Primary ciliary dyskinesia
RS114625063 NAGLU Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS114626713 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS114628602 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS114630202 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS114630940 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS114636635 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Noonan syndrome and Noonan-related syndrome
RS114638163 MIPEP Health Risk Pathogenic Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Cardiomyopathy
RS114645869 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Infantile nephronophthisis
RS114647348 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS114649509 UCP2 Health Risk Conflicting classifications of pathogenicity —
RS114649884 PIEZO2 Health Risk Conflicting classifications of pathogenicity PIEZO2-related disorder, Inborn genetic diseases
RS114655330 TMEM67 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 3
RS11465552 IL17F Health Risk Conflicting classifications of pathogenicity Candidiasis, familial
RS114655654 FKTN Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS114658110 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS11466015 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Familial Mediterranean fever
RS11466016 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS11466018 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS11466022 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS11466023 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS11466024 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Inborn genetic diseases
RS11466026 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS11466045 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS11466047 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS11466048 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS11466050 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Familial Mediterranean fever
RS11466112 NGF Health Risk Likely pathogenic Congenital sensory neuropathy with selective loss of small myelinated fibers, Congenital sensory neuropathy with selective loss of small myelinated fibers
RS114661874 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS11466408 TGFB2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 4, Familial thoracic aortic aneurysm and aortic dissection
RS114664276 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Psoriatic arthritis
RS11466445 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, TGFBR1-related disorder
RS114665866 SLC26A2 Health Risk Likely pathogenic Achondrogenesis, type IB
RS114670807 PIGL Health Risk Conflicting classifications of pathogenicity CHIME syndrome, PIGL-related disorder
RS114678203 PCDHGC4 Health Risk Pathogenic Neurodevelopmental disorder with poor growth and skeletal anomalies, Neurodevelopmental disorder with poor growth and skeletal anomalies
RS114678556 VDR Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia, VDR-related disorder
RS114684687 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS114686452 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ALPK3-related disorder
RS114687267 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS114688020 HHIP Health Risk Conflicting classifications of pathogenicity —
RS114688149 FREM2 Health Risk Conflicting classifications of pathogenicity FREM2-related disorder, FREM2-related disorder
RS114697377 PIGL Health Risk Conflicting classifications of pathogenicity CHIME syndrome, CHIME syndrome
RS114698062 CENPE Health Risk Conflicting classifications of pathogenicity CENPE-related disorder, CENPE-related disorder
RS114703390 ADCY10 Health Risk Conflicting classifications of pathogenicity ADCY10-related disorder, ADCY10-related disorder
RS114704569 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS114706984 BCHE Health Risk Conflicting classifications of pathogenicity Deficiency of butyrylcholinesterase, See cases
RS114710997 ERCC3 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group B, Xeroderma pigmentosum
RS114714497 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
RS114718913 BBS7 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS114719193 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Familial infantile myasthenia
RS114725374 TTC21B Health Risk Conflicting classifications of pathogenicity Nephronophthisis 12, Asphyxiating thoracic dystrophy 4
RS114726797 LPL Health Risk Conflicting classifications of pathogenicity Hyperlipoproteinemia, type I
RS114727354 KMT5B Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 51
RS114727970 AMPD2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9
RS114728208 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS114733570 FLG Health Risk Pathogenic/Likely pathogenic Ichthyosis vulgaris, FLG-related disorder
RS114736729 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS114741005 SERAC1 Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria with deafness, encephalopathy
RS114741660 PLEKHG2 Health Risk Conflicting classifications of pathogenicity —
RS114742918 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS114743173 SP110 Health Risk Conflicting classifications of pathogenicity Hepatic veno-occlusive disease-immunodeficiency syndrome, Mycobacterium tuberculosis
RS114743644 CFH Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 4, Basal laminar drusen
RS114745089 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS114748706 MTRR Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblE, Disorders of Intracellular Cobalamin Metabolism
RS114749335 LTBP4 Health Risk Conflicting classifications of pathogenicity Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS114754869 CDHR1 Health Risk Conflicting classifications of pathogenicity CDHR1-related disorder, Inborn genetic diseases
RS114755364 WWOX Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy
RS114758821 HFE Health Risk Conflicting classifications of pathogenicity Hereditary hemochromatosis, Hemochromatosis type 1
RS114764419 CATSPER1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 7, Spermatogenic failure 7
RS114766892 IGLL1 Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 2, autosomal recessive
RS114767681 DCLRE1C Health Risk Conflicting classifications of pathogenicity Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency
RS114768815 ATP10A Health Risk Conflicting classifications of pathogenicity —
RS114770711 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, COL27A1-related disorder
RS114777847 PTPRD Health Risk Conflicting classifications of pathogenicity —
RS114781869 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Autoimmune thyroid disease
RS114782902 AGPAT2 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Congenital generalized lipodystrophy type 1
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