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
RS1430015665 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS143002189 TNFAIP3 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, familial
RS1430022410 SF1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS143002265 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS143003940 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Inborn genetic diseases
RS143004795 SPECC1L Health Risk Conflicting classifications of pathogenicity SPECC1L-related disorder, SPECC1L-related disorder
RS143005058 TTC29 Health Risk Conflicting classifications of pathogenicity —
RS143005300 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Inborn genetic diseases
RS143006771 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS143007518 DNAH9 Health Risk Conflicting classifications of pathogenicity Ciliary dyskinesia, primary
RS143007713 BMP6 Health Risk Conflicting classifications of pathogenicity Neonatal hemochromatosis, Neonatal hemochromatosis
RS143008553 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS143008696 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, IL17RA-related disorder
RS143008970 COL9A2 Health Risk Conflicting classifications of pathogenicity COL9A2-related disorder, COL9A2-related disorder
RS143009120 SGCG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS143009528 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS143009880 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS143010135 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS143010236 TTPA Health Risk Pathogenic/Likely pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS1430105900 MIB1 Health Risk Likely pathogenic Left ventricular noncompaction 7, Left ventricular noncompaction 7
RS143010678 RAB3GAP1 Health Risk Conflicting classifications of pathogenicity Warburg micro syndrome 1, Warburg micro syndrome 1
RS143010767 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS143011005 KCNH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome 2
RS143011495 CFAP44 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1430119276 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1430122594 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS143012720 NBAS Health Risk Pathogenic Infantile liver failure syndrome 2, Short stature-optic atrophy-Pelger-Huët anomaly syndrome
RS1430134820 OPLAH Health Risk Likely pathogenic OPLAH-related disorder, OPLAH-related disorder
RS1430146519 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS143014855 ATP11A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143015515 CD3E Health Risk Conflicting classifications of pathogenicity Immunodeficiency 18, Immunodeficiency 18
RS143015575 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS1430156647 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS1430159201 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS143017017 DCHS1 Health Risk Conflicting classifications of pathogenicity —
RS1430171224 DNAH9 Health Risk Pathogenic —
RS1430176022 SLC4A11 Health Risk Likely pathogenic Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy-perceptive deafness syndrome
RS143019304 NOSTRIN Health Risk Conflicting classifications of pathogenicity —
RS1430200092 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS143020311 PAX9 Health Risk Conflicting classifications of pathogenicity Tooth agenesis, selective
RS143021112 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS143022417 PNPT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143022823 SLC1A1 Health Risk Conflicting classifications of pathogenicity Dicarboxylic aminoaciduria, SLC1A1-related disorder
RS1430228393 MSH4 Health Risk Likely pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS143023066 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS143023529 TG Health Risk Pathogenic —
RS143024324 VPS13B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cohen syndrome
RS143024499 DMXL1 Health Risk Conflicting classifications of pathogenicity —
RS1430249191 PGAP1 Health Risk Likely pathogenic —
RS143025382 CCDC141 Health Risk Conflicting classifications of pathogenicity CCDC141-related disorder, CCDC141-related disorder
RS143025396 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Osteopetrosis
RS143025739 CSF1R Health Risk Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids, Inborn genetic diseases
RS1430262254 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Inborn genetic diseases
RS143026267 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS143026968 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS143027239 CYP11B2 Health Risk Conflicting classifications of pathogenicity Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency
RS143027621 TNFRSF13B Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS1430282035 MYH7B Health Risk Likely pathogenic Short stature, Short stature
RS143028649 ACTG1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
RS143028785 CEP131 Health Risk Conflicting classifications of pathogenicity —
RS1430290356 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS143029477 RNASEH2A Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4, Inborn genetic diseases
RS143030869 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS143030960 SUCLG1 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 9, SUCLG1-related disorder
RS143031195 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS143031224 GFM1 Health Risk Pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1430317959 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1430325915 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS143032801 SH3TC2 Health Risk Conflicting classifications of pathogenicity Susceptibility to mononeuropathy of the median nerve, mild
RS143032902 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143034104 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1430341179 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS143034754 PLG Health Risk Conflicting classifications of pathogenicity Angioedema, hereditary
RS143034856 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, CBL-related disorder
RS143035415 CD27 Health Risk Conflicting classifications of pathogenicity Lymphoproliferative syndrome 2, Inborn genetic diseases
RS1430358951 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143035930 TBXAS1 Health Risk Conflicting classifications of pathogenicity —
RS143035953 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS1430363516 FAM110C Health Risk Pathogenic Streaky metaphyseal sclerosis, Aplasia/Hypoplasia of the phalanges of the 4th toe
RS1430366832 HUWE1 Health Risk Conflicting classifications of pathogenicity —
RS143036974 MSH6 Health Risk Likely pathogenic Endometrial carcinoma, Endometrial carcinoma
RS1430369916 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS143037290 KIF1A Health Risk Conflicting classifications of pathogenicity History of neurodevelopmental disorder, Hereditary spastic paraplegia 30
RS143037477 KRT83 Health Risk Conflicting classifications of pathogenicity Monilethrix, Monilethrix
RS143037856 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS143038064 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, Inborn genetic diseases
RS143038626 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS1430386333 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS143038880 PGAP1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 42
RS143040005 CABP4 Health Risk Conflicting classifications of pathogenicity Cone-rod synaptic disorder, congenital nonprogressive
RS143040168 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Inborn genetic diseases
RS143040240 CIT Health Risk Conflicting classifications of pathogenicity CIT-related disorder, CIT-related disorder
RS143040272 EFTUD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143040492 AR Health Risk Pathogenic/Likely pathogenic Androgen resistance syndrome, Kennedy disease
RS1430414907 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS143041528 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS143041875 FBXO7 Health Risk Conflicting classifications of pathogenicity Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS1430424840 NLRP12 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Familial cold autoinflammatory syndrome 2
RS143043350 HOXA2 Health Risk Conflicting classifications of pathogenicity Bilateral microtia-deafness-cleft palate syndrome, Bilateral microtia-deafness-cleft palate syndrome
RS143043614 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases
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