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
RS1352801514 TNXB Health Risk Conflicting classifications of pathogenicity —
RS1352808353 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS1352813413 NKX2-5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Atrial septal defect 7
RS1352826089 CFI Health Risk Likely pathogenic/Likely pathogenic, low penetrance CFI-related disorder, CFI-related disorder
RS1352861184 FLNC Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1352876349 MYO15A Health Risk Pathogenic —
RS1352900858 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS1352910925 GPHN Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS1352914856 COL27A1 Health Risk Likely pathogenic —
RS1352922801 HMOX1 Health Risk Pathogenic —
RS1352923765 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1352926525 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS1352931329 CYBA Health Risk Pathogenic Granulomatous disease, chronic
RS1352968108 SLC37A4 Health Risk Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1352981584 GALNT3 Health Risk Likely pathogenic —
RS1352986086 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1352999116 SLC45A2 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS1353010901 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS1353016807 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary breast ovarian cancer syndrome
RS1353022856 LRBA Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1353055740 FRAS1 Health Risk Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1353058781 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS1353062665 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1353073416 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1353074803 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS1353098253 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS1353109719 ADAMTS18 Health Risk Pathogenic —
RS1353156898 COL2A1 Health Risk Conflicting classifications of pathogenicity COL2A1-related disorder, COL2A1-related disorder
RS1353165210 LIG4 Health Risk Conflicting classifications of pathogenicity DNA ligase IV deficiency, DNA ligase IV deficiency
RS1353165398 MTRR Health Risk Pathogenic/Likely pathogenic Methylcobalamin deficiency type cblE, Neural tube defects
RS1353172878 TMEM260 Health Risk Likely pathogenic Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome
RS1353172956 WDR19 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS1353173742 SMAD6 Health Risk Conflicting classifications of pathogenicity —
RS1353211680 CUX2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 67
RS1353241230 KIZ Health Risk Pathogenic —
RS1353267621 DNAJB4 Health Risk Pathogenic Congenital myopathy 21 with early respiratory failure, Congenital myopathy 21 with early respiratory failure
RS1353278679 DPPA2 Health Risk Likely pathogenic Premature ovarian failure, Premature ovarian failure
RS1353290865 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, Inborn genetic diseases
RS1353328963 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1353334452 COL4A4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1353373400 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1353393888 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram syndrome 1, Wolfram syndrome 1
RS1353395919 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Familial isolated arrhythmogenic right ventricular dysplasia
RS1353402674 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Proteinuria
RS1353409115 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, Inborn genetic diseases
RS1353417724 ATP1A3 Health Risk Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2, Dystonia 12
RS1353421249 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS1353432136 VPS13A Health Risk Pathogenic —
RS1353464242 WDR81 Health Risk Likely pathogenic Cerebellar ataxia, intellectual disability
RS1353480777 COL4A5 Health Risk Likely pathogenic Alport syndrome, Alport syndrome
RS1353485252 NGLY1 Health Risk Likely pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS1353492847 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1353493677 SLC4A2 Health Risk Pathogenic Osteopetrosis, autosomal recessive 9
RS1353506638 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1353512742 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1353528319 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1353535488 TCTN1 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1353542088 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1353542774 PCCB Health Risk Pathogenic Propionic acidemia, Inborn genetic diseases
RS1353551542 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1353563172 PLOD2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta, Bruck syndrome 2
RS1353587068 MFRP Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS1353598791 MYO7A Health Risk Pathogenic/Likely pathogenic Usher syndrome, Usher syndrome
RS1353606328 ARHGEF18 Health Risk Pathogenic —
RS1353623780 GCH1 Health Risk Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency, Dystonia 5
RS1353636049 GREB1L Health Risk Conflicting classifications of pathogenicity Renal hypodysplasia/aplasia 3, Mayer-Rokitansky-Kuster-Hauser syndrome
RS1353660689 WDFY3 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS1353661531 MLIP Health Risk Pathogenic Myopathy with myalgia, increased serum creatine kinase
RS1353683992 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1353707093 SKIC2 Health Risk Pathogenic SKIC2-related disorder, SKIC2-related disorder
RS1353710115 CACNA1A Health Risk Likely pathogenic CACNA1A-related disorder, CACNA1A-related disorder
RS1353717821 TRAPPC11 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type R18, Inborn genetic diseases
RS1353723750 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1353732061 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1353746682 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS1353757275 SLC19A3 Health Risk Pathogenic/Likely pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS1353761128 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS1353761854 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1353778985 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS1353802225 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS1353809695 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1353848256 GPSM2 Health Risk Pathogenic/Likely pathogenic —
RS1353879401 SNX10 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 8, Autosomal recessive osteopetrosis 8
RS1353889281 GRM6 Health Risk Pathogenic —
RS1353891039 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS1353930135 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, FG syndrome
RS1353948871 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1353957108 NOBOX Health Risk Pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS1353971489 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1353981722 ABAT Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS1353982573 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS1353992080 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS1354004604 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS1354030520 RB1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Retinoblastoma
RS1354042829 CNGA3 Health Risk Pathogenic Retinal dystrophy, Achromatopsia 2
RS1354044963 RYR1 Health Risk Likely pathogenic RYR1-related disorder, Malignant hyperthermia
RS1354060089 ASAH1 Health Risk Conflicting classifications of pathogenicity Farber lipogranulomatosis, Farber lipogranulomatosis
RS1354063885 IMPDH1 Health Risk Likely pathogenic —
RS1354079241 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS1354082523 GBA2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
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