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
RS2070272477 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS2070273084 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070273520 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2070274228 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070275502 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070287917 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070288287 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070290006 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070290107 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070290843 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070296011 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070298589 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2070298779 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2070299730 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2070315709 DLG4 Health Risk Likely pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2070316114 DLG4 Health Risk Pathogenic —
RS2070316408 RAX Health Risk Pathogenic Isolated microphthalmia 3, Isolated microphthalmia 3
RS2070316606 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2070326034 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070327932 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070327979 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070332383 PIGS Health Risk Pathogenic Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18
RS2070339252 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070339649 NF1 Health Risk Pathogenic/Likely pathogenic Juvenile myelomonocytic leukemia, Neurofibromatosis
RS2070340004 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070346743 G6PD Health Risk Pathogenic Anemia, nonspherocytic hemolytic
RS2070346788 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
RS2070350009 G6PD Health Risk Pathogenic G6PD VARNSDORF, Anemia
RS2070350038 G6PD Health Risk Pathogenic G6PD ZURICH, Anemia
RS2070352108 G6PD Health Risk Pathogenic Anemia, nonspherocytic hemolytic
RS2070355916 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
RS2070358006 G6PD Health Risk Conflicting classifications of pathogenicity G6PD deficiency, Anemia
RS2070372934 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070373881 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070375134 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS2070375859 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070383298 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
RS2070395767 G6PD Health Risk Conflicting classifications of pathogenicity G6PD deficiency, Anemia
RS2070404146 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS2070404412 G6PD Health Risk Pathogenic Anemia, nonspherocytic hemolytic
RS2070426 PCNT Health Risk Conflicting classifications of pathogenicity —
RS2070433656 SDCCAG8 Health Risk Likely pathogenic Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS2070436374 COL4A3 Health Risk Pathogenic —
RS2070466353 TNRC6B Health Risk Pathogenic —
RS2070531732 POLR2A Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
RS2070534871 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
RS2070541197 TNRC6B Health Risk Conflicting classifications of pathogenicity Global developmental delay with speech and behavioral abnormalities, Inborn genetic diseases
RS2070546216 POLR2A Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
RS2070561031 POLR2A Health Risk Pathogenic/Likely pathogenic Severe global developmental delay, Severe global developmental delay
RS2070581346 POLR2A Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
RS2070588471 POLR2A Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
RS2070591 EDNRB Health Risk Conflicting classifications of pathogenicity Hirschsprung disease, susceptibility to
RS2070619300 AFF2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2070634 AHSG Health Risk association Nephrolithiasis, calcium oxalate
RS2070635 AHSG Health Risk association Nephrolithiasis, calcium oxalate
RS2070635297 NBEA Health Risk Pathogenic Inborn genetic diseases, Neurodevelopmental disorder with or without early-onset generalized epilepsy
RS2070642658 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2070645772 MADD Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies, impaired speech
RS2070649864 TTN Health Risk Pathogenic Centronuclear myopathy, Dilated cardiomyopathy 1G
RS2070665204 POLR2A Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
RS2070680579 POLR2A Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Inborn genetic diseases
RS2070702973 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
RS2070706721 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
RS2070708365 CHKB Health Risk Pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS2070711917 POLR2A Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
RS2070729548 GPC3 Health Risk Likely pathogenic —
RS2070732825 POLR2A Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
RS2070734616 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS2070736908 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2070773527 TRAPPC9 Health Risk Likely pathogenic —
RS2070806148 IKBKG Health Risk Pathogenic Immunodeficiency 33, Immunodeficiency 33
RS2070897613 COL4A3 Health Risk Conflicting classifications of pathogenicity COL4A3-related disorder, Autosomal dominant Alport syndrome
RS2070901479 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2070938396 COL4A3 Health Risk Pathogenic —
RS2070949441 IKBKG Health Risk Pathogenic Incontinentia pigmenti syndrome, Incontinentia pigmenti syndrome
RS2070955 FUCA1 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Fucosidosis
RS2070957033 NBEA Health Risk Pathogenic Epilepsy, Neurodevelopmental delay
RS2070960570 SLC9A6 Health Risk Conflicting classifications of pathogenicity Christianson syndrome, Christianson syndrome
RS2070991188 SPEN Health Risk Likely pathogenic Radio-Tartaglia syndrome, Radio-Tartaglia syndrome
RS2071009325 TNRC6B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2071044098 ACADVL;DLG4 Health Risk Likely pathogenic —
RS2071051447 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS2071057426 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2071057893 CANT1 Health Risk Pathogenic —
RS2071059718 IKBKG Health Risk Pathogenic Immunodeficiency 33, Immunodeficiency 33
RS2071063100 IKBKG Health Risk Pathogenic Incontinentia pigmenti syndrome, Incontinentia pigmenti syndrome
RS2071063107 CANT1 Health Risk Likely pathogenic Abnormality of the skeletal system, Abnormality of the skeletal system
RS2071072322 GPC3 Health Risk Likely pathogenic Wilms tumor 1, Thyroid cancer
RS2071072718 GPC3 Health Risk Pathogenic Wilms tumor 1, Wilms tumor 1
RS2071072751 GPC3 Health Risk Pathogenic Wilms tumor 1, Wilms tumor 1
RS2071074944 GPC3 Health Risk Likely pathogenic Simpson-Golabi-Behmel syndrome type 1, Simpson-Golabi-Behmel syndrome type 1
RS2071085962 CANT1 Health Risk Conflicting classifications of pathogenicity Desbuquois dysplasia 1, Desbuquois dysplasia 1
RS2071086256 FANCC Health Risk Pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS2071086995 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS2071089000 FANCC Health Risk Pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS2071101767 IKBKG Health Risk Pathogenic IMMUNODEFICIENCY 33, MALE-RESTRICTED
RS2071111529 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2071119862 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2071120876 IKBKG Health Risk Pathogenic IKBKG-related disorder, IKBKG-related disorder
RS2071121693 IKBKG Health Risk Pathogenic NEMO deleted exon 5-autoinflammatory syndrome (NEMO-NDAS), Autoinflammatory disease
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