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
RS149055008 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Inborn genetic diseases
RS149055633 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS149055711 INVS Health Risk Pathogenic Infantile nephronophthisis, Nephronophthisis
RS149056068 ROR2 Health Risk Conflicting classifications of pathogenicity ROR2-related disorder, ROR2-related disorder
RS1490564667 FGFR3 Health Risk Conflicting classifications of pathogenicity 14 conditions, 14 conditions
RS149057077 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS149057410 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS1490579507 HELLS Health Risk Likely pathogenic —
RS149058086 PEX19 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 12A (Zellweger), PEX19-related disorder
RS1490587812 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS149058840 MSTO1 Health Risk Conflicting classifications of pathogenicity —
RS149058915 RNF13 Health Risk Conflicting classifications of pathogenicity —
RS149059189 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1490594879 RP2 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1490598044 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1490598538 CLCN7 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4
RS149059995 ACTA2 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 6
RS1490604080 FGF8 Health Risk Likely pathogenic Holoprosencephaly sequence, Holoprosencephaly sequence
RS149061222 NARS2 Health Risk Conflicting classifications of pathogenicity —
RS149061352 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1490617677 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS149062442 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS149063473 SEC24D Health Risk Conflicting classifications of pathogenicity Cole-Carpenter syndrome 2, Inborn genetic diseases
RS149063501 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1490645147 PI4KA Health Risk Pathogenic Polymicrogyria, perisylvian
RS149064632 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS149064715 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS149065013 DOCK8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Combined immunodeficiency due to DOCK8 deficiency
RS149065210 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Telangiectasia
RS149065251 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS1490661508 DBT Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS149066183 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS149066296 DHTKD1 Health Risk Conflicting classifications of pathogenicity 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS1490668038 ALPL Health Risk Pathogenic/Likely pathogenic Childhood hypophosphatasia, Infantile hypophosphatasia
RS149067146 FECH Health Risk Pathogenic Protoporphyria, erythropoietic
RS149067268 F5 Health Risk Conflicting classifications of pathogenicity Budd-Chiari syndrome, Factor V deficiency
RS149067277 BMPR2 Health Risk Conflicting classifications of pathogenicity Pulmonary arterial hypertension, Pulmonary arterial hypertension associated with another disease
RS149067286 HDAC4 Health Risk Conflicting classifications of pathogenicity HDAC4-related disorder, HDAC4-related disorder
RS149067356 WDFY3 Health Risk Conflicting classifications of pathogenicity Microcephaly 18, primary
RS1490688611 COL4A3 Health Risk Likely pathogenic —
RS1490691301 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149070106 DSP Health Risk Conflicting classifications of pathogenicity Lethal acantholytic epidermolysis bullosa, Woolly hair-skin fragility syndrome
RS149070244 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS149070832 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Inherited obesity
RS149071215 CACNA1B Health Risk Conflicting classifications of pathogenicity —
RS149071226 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS149071335 UGT1A1 Health Risk Conflicting classifications of pathogenicity UGT1A1-related disorder, UGT1A1-related disorder
RS149071415 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Cone-rod dystrophy 3
RS1490714621 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS149071920 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal dominant
RS1490722251 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS149073155 FBN3 Health Risk Conflicting classifications of pathogenicity —
RS149073355 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS1490743354 PRDM5 Health Risk Pathogenic —
RS1490746741 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS149075285 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1490771127 WDR35 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS149077114 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS149077357 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS149077800 CFAP44 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149078111 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS149079426 TRIP11 Health Risk Pathogenic Odontochondrodysplasia 1, Odontochondrodysplasia 1
RS1490796232 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149079952 RHO Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS149079962 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS149080130 UGT8 Health Risk Conflicting classifications of pathogenicity Hepatocellular carcinoma, Hepatocellular carcinoma
RS1490804242 CNGA1 Health Risk Pathogenic —
RS149080426 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149081239 HPD Health Risk Conflicting classifications of pathogenicity Tyrosinemia type III, Hawkinsinuria
RS149081471 ITGA7 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to integrin alpha-7 deficiency, ITGA7-related disorder
RS149082253 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1490822985 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS149082597 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS1490826010 PNPLA6 Health Risk Likely pathogenic Hereditary spastic paraplegia 39, Sarcoma
RS1490841403 MPDZ Health Risk Pathogenic —
RS149084241 MGP Health Risk Conflicting classifications of pathogenicity Keutel syndrome, Keutel syndrome
RS149084717 TNFRSF13B Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS1490850743 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1490859586 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS149087116 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS149088047 F13B Health Risk Conflicting classifications of pathogenicity Factor XIII, b subunit
RS149088081 DLAT Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E2 deficiency, Inborn genetic diseases
RS1490888369 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS149089817 KCNQ1 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Long QT syndrome
RS149089833 GORAB Health Risk Conflicting classifications of pathogenicity Geroderma osteodysplastica, Geroderma osteodysplastica
RS149089854 TGM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149090172 CTDP1 Health Risk Conflicting classifications of pathogenicity Congenital cataracts-facial dysmorphism-neuropathy syndrome, Congenital cataracts-facial dysmorphism-neuropathy syndrome
RS1490906786 TRMU Health Risk Pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness
RS149090997 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS1490912913 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS149091407 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS149091795 SH2B1 Health Risk Conflicting classifications of pathogenicity SH2B1-related disorder, SH2B1-related disorder
RS149091975 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 1, Holoprosencephaly 9
RS149092241 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Budd-Chiari syndrome
RS149092606 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1490929702 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS149092990 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1490932431 FANCL Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group L
RS1490935299 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS149093986 HEPACAM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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