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
RS1216099725 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS1216139602 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS1216140697 CDH23 Health Risk Pathogenic —
RS1216148236 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1216169899 CCDC40 Health Risk Likely pathogenic Primary ciliary dyskinesia 15, Primary ciliary dyskinesia 15
RS12161733 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Lymphoma
RS1216182303 DNAAF5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1216191482 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1216204013 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1216207042 DNAH8 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1216210580 LBR Health Risk Conflicting classifications of pathogenicity Greenberg dysplasia, Sarcoma
RS1216260561 GDF9 Health Risk Likely pathogenic Premature ovarian failure 14, Premature ovarian failure 14
RS1216266838 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1216271983 NAA15 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 50
RS1216272084 AEBP1 Health Risk Pathogenic —
RS1216272782 PKD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS1216276758 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS1216278486 ITGAM Health Risk Conflicting classifications of pathogenicity —
RS1216280532 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS1216312399 EYS Health Risk Pathogenic —
RS1216313735 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS12163163 ALG12 Health Risk Conflicting classifications of pathogenicity ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS1216328081 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1216332385 NHS Health Risk Conflicting classifications of pathogenicity Nance-Horan syndrome, Inborn genetic diseases
RS1216332861 GP1BB Health Risk Pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS1216335768 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS1216356488 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1216367965 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1216373008 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1216378691 LTBP2 Health Risk Pathogenic —
RS1216388009 QRSL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1216396008 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1216415127 STAG2 Health Risk Likely pathogenic Mullegama-Klein-Martinez syndrome, Mullegama-Klein-Martinez syndrome
RS1216415565 SLC26A2 Health Risk Likely pathogenic —
RS1216419547 COL4A1 Health Risk Likely pathogenic —
RS1216420598 PHIP Health Risk Conflicting classifications of pathogenicity PHIP-related disorder, Early onset severe obesity
RS1216426444 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Neuroblastoma
RS1216480002 CHST3 Health Risk Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS1216516070 F9 Health Risk Pathogenic/Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1216516227 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1216517249 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS1216521596 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS1216521924 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS1216527991 SHANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1216537041 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1216558739 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1216569807 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS1216591891 MRE11 Health Risk Likely pathogenic Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1
RS1216637259 TRAPPC11 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS1216659000 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1216670261 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1216683440 CDK13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1216698566 EYS Health Risk Pathogenic —
RS1216718864 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS1216733455 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1216738448 LZTR1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1216776022 STAT2 Health Risk Pathogenic Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
RS1216783170 TCTN2 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1216809389 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus
RS1216811263 CSRP3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12
RS1216814159 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1216840899 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1216842831 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1216878586 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1216879587 SEC23B Health Risk Pathogenic/Likely pathogenic Congenital dyserythropoietic anemia, type II
RS1216887221 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS1216903258 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1216905667 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS1216922486 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1216929720 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1216940721 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS1216945458 CEP83 Health Risk Pathogenic Nephronophthisis 18, Nephronophthisis 18
RS1216952842 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram syndrome 1, WFS1-related disorder
RS1216966090 RYR1 Health Risk Likely pathogenic RYR1-related disorder, Malignant hyperthermia
RS1216968523 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS1216972369 PLA2G6 Health Risk Pathogenic/Likely pathogenic Infantile neuroaxonal dystrophy, See cases
RS1216993077 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS1217001154 SMN1 Health Risk Pathogenic/Likely pathogenic Spinal muscular atrophy, type II
RS1217013234 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS1217015143 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS1217022955 RRM2B Health Risk Pathogenic —
RS1217050849 DBT Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1217053724 LAMC2 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS1217060412 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS1217078313 CYP19A1 Health Risk Pathogenic —
RS1217128211 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1217128941 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS1217139658 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1217148619 FLG Health Risk Pathogenic —
RS1217170426 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1217172210 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS1217190017 ITGA7 Health Risk Likely pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS1217203217 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group G, Fanconi anemia
RS1217205469 NOTCH3 Health Risk Pathogenic —
RS1217229880 GATM Health Risk Pathogenic/Likely pathogenic Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
RS1217230000 TTN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS1217234880 NTRK2 Health Risk Conflicting classifications of pathogenicity NTRK2-related disorder, NTRK2-related disorder
RS1217241110 PAX2 Health Risk Pathogenic Focal segmental glomerulosclerosis 7, Renal coloboma syndrome
RS1217276014 NHLRC1 Health Risk Pathogenic Lafora disease, Lafora disease
RS1217276136 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
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