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
RS267608191 PEX26 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS267608193 PEX3 Health Risk Pathogenic Peroxisome biogenesis disorder 10A (Zellweger), Peroxisome biogenesis disorder 1A (Zellweger)
RS267608194 PEX5 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 2B, Zellweger spectrum disorders
RS267608202 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS267608203 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS267608205 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS267608207 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder
RS267608208 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS267608212 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger)
RS267608213 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder
RS267608216 PEX6 Health Risk Pathogenic Heimler syndrome 2, Peroxisome biogenesis disorder 4B
RS267608218 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS267608219 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger)
RS267608223 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4B
RS267608227 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4B
RS267608229 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS267608230 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger)
RS267608234 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS267608239 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS267608240 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS267608241 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder 4B, Heimler syndrome 2
RS267608242 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS267608243 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS267608246 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS267608247 PEX6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Peroxisome biogenesis disorder
RS267608249 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS267608251 PEX6 Health Risk Pathogenic Heimler syndrome 2, Heimler syndrome 2
RS267608252 PEX7 Health Risk Likely pathogenic Phytanic acid storage disease, Peroxisome biogenesis disorder 9B
RS267608253 PEX7 Health Risk Pathogenic Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS267608254 PEX7 Health Risk Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS267608255 PEX7 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 9B, Phytanic acid storage disease
RS267608256 PEX7 Health Risk Likely pathogenic Peroxisome biogenesis disorder 9B, Ovarian serous cystadenocarcinoma
RS267608257 PEX7 Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS267608259 PGM3 Health Risk Pathogenic/Likely pathogenic Hyper-IgE syndrome, Immunodeficiency 23
RS267608260 PGM3 Health Risk Pathogenic Hyper-IgE syndrome, Immunodeficiency 23
RS267608261 PGM3 Health Risk Pathogenic Immunodeficiency 23, Hyper-IgE syndrome
RS267608327 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, zappella variant
RS267608329 MECP2 Health Risk Conflicting classifications of pathogenicity Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS267608332 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS267608333 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS267608334 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS267608336 MECP2 Health Risk Conflicting classifications of pathogenicity Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS267608337 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS267608338 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS267608339 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Rett syndrome
RS267608340 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS267608343 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS267608348 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS267608349 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS267608351 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS267608369 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS267608372 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS267608373 MECP2 Health Risk Pathogenic/Likely pathogenic Severe neonatal-onset encephalopathy with microcephaly, Rett syndrome
RS267608374 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS267608376 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS267608377 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS267608378 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS267608379 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS267608380 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS267608381 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS267608382 MECP2 Health Risk Pathogenic Rett syndrome, Intellectual disability
RS267608383 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, Rett syndrome
RS267608385 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS267608386 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS267608387 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS267608389 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS267608392 MECP2 Health Risk Conflicting classifications of pathogenicity Severe neonatal-onset encephalopathy with microcephaly, Rett syndrome
RS267608395 CDKL5 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 2
RS267608398 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS267608399 MECP2 Health Risk Likely pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS267608400 MECP2 Health Risk Conflicting classifications of pathogenicity Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS267608403 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS267608405 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS267608411 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, Rett syndrome
RS267608412 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS267608415 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS267608416 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS267608417 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, Rett syndrome
RS267608418 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS267608419 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS267608420 CDKL5 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 2
RS267608421 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS267608423 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS267608424 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS267608425 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS267608426 MECP2 Health Risk Pathogenic Rett syndrome, Angelman syndrome
RS267608427 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS267608428 MECP2 Health Risk Likely pathogenic Severe neonatal-onset encephalopathy with microcephaly, Rett syndrome
RS267608429 CDKL5 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 2
RS267608430 CDKL5 Health Risk Pathogenic Atypical Rett syndrome, CDKL5 disorder
RS267608433 CDKL5 Health Risk Pathogenic/Likely pathogenic Atypical Rett syndrome, Developmental and epileptic encephalopathy
RS267608434 MECP2 Health Risk Pathogenic Rett syndrome, Angelman syndrome
RS267608436 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS267608438 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, Abnormality of the nervous system
RS267608441 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS267608442 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS267608443 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS267608444 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS267608445 MECP2 Health Risk Likely pathogenic Rett syndrome, Thyroid cancer
RS267608446 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
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