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
RS2519031306 GSS Health Risk Pathogenic Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
RS2519033349 GSS Health Risk Pathogenic Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
RS2519036298 GSS Health Risk Likely pathogenic Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
RS2519036640 GSS Health Risk Likely pathogenic Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
RS2519039652 MID1 Health Risk Pathogenic —
RS2519043780 GSS Health Risk Pathogenic/Likely pathogenic Glutathione synthetase deficiency without 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
RS2519043873 GSS Health Risk Pathogenic Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
RS2519049277 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS2519049304 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS2519049357 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS2519049362 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS2519049376 NR0B1 Health Risk Pathogenic/Likely pathogenic NR0B1-related disorder, Congenital adrenal hypoplasia
RS2519050843 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS2519050868 NR0B1 Health Risk Pathogenic NR0B1-related disorder, NR0B1-related disorder
RS2519051075 NR0B1 Health Risk Likely pathogenic Congenital adrenal hypoplasia, X-linked
RS2519051116 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS2519051128 NR0B1 Health Risk Likely pathogenic —
RS2519051194 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS2519051223 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS2519051351 NR0B1 Health Risk Pathogenic NR0B1-related disorder, NR0B1-related disorder
RS2519051360 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS2519051412 NR0B1 Health Risk Likely pathogenic Congenital adrenal hypoplasia, X-linked
RS2519051604 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS2519051714 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS2519051723 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS2519051880 NR0B1 Health Risk Pathogenic —
RS2519051933 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS2519051970 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS2519052221 NR0B1 Health Risk Likely pathogenic Congenital adrenal hypoplasia, X-linked
RS2519052283 NR0B1 Health Risk Likely pathogenic Congenital adrenal hypoplasia, X-linked
RS2519053431 NAGA Health Risk Pathogenic Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1
RS2519053484 NAGA Health Risk Pathogenic Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1
RS2519053637 NAGA Health Risk Pathogenic Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1
RS2519056022 PCNT Health Risk Pathogenic —
RS2519056187 NAGA Health Risk Likely pathogenic Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1
RS2519056409 NAGA Health Risk Pathogenic Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency
RS2519056669 NAGA Health Risk Pathogenic Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1
RS2519056930 PCNT Health Risk Pathogenic —
RS2519057308 DMD Health Risk Pathogenic —
RS2519057505 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2519058015 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2519058491 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2519059881 DMD Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2519061179 NAGA Health Risk Pathogenic Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1
RS2519061488 NAGA Health Risk Pathogenic Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1
RS2519064275 NAGA Health Risk Pathogenic Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1
RS2519064379 NAGA Health Risk Pathogenic Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1
RS2519065479 NAGA Health Risk Likely pathogenic Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1
RS2519065527 NAGA Health Risk Pathogenic Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1
RS2519067593 DEPDC5 Health Risk Likely pathogenic —
RS2519073881 PCNT Health Risk Likely pathogenic —
RS2519083192 CNKSR2 Health Risk Likely pathogenic Intellectual disability, X-linked
RS2519091663 IL1RAPL1 Health Risk Likely pathogenic Intellectual disability, X-linked 21
RS2519093 ABO Health Risk association ABO blood group system, ABO blood group system
RS2519094101 IL1RAPL1 Health Risk Pathogenic —
RS2519098517 DEPDC5 Health Risk Likely pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2519099220 ARX Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 1
RS2519099293 ARX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS2519099311 ARX Health Risk Likely pathogenic Intellectual disability, X-linked
RS2519099351 ARX Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 1
RS2519099357 ARX Health Risk Pathogenic Intellectual disability, X-linked
RS2519099414 ARX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS2519099802 MID1 Health Risk Pathogenic —
RS2519101342 CNKSR2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked
RS2519101408 ARX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS2519101445 ARX Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519101659 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2519101744 ARX Health Risk Pathogenic Intellectual disability, X-linked
RS2519101904 ARX Health Risk Pathogenic Intellectual disability, X-linked
RS2519101958 ARX Health Risk Pathogenic Intellectual disability, X-linked
RS2519104168 ARX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS2519106563 ARX Health Risk Likely pathogenic X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia
RS2519107008 ARX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS2519107067 ARX Health Risk Pathogenic X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia
RS2519107209 ARX Health Risk Pathogenic Intellectual disability, X-linked
RS2519107237 ARX Health Risk Pathogenic —
RS2519107284 ARX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS2519107314 ARX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS2519107521 ARX Health Risk Pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS2519109094 ARX Health Risk Pathogenic Intellectual disability, X-linked
RS2519109392 ARX Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 1
RS2519111000 PCNT Health Risk Pathogenic —
RS2519111064 EBP Health Risk Pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS2519111356 EBP Health Risk Likely pathogenic —
RS2519111380 EBP Health Risk Pathogenic —
RS2519111447 EBP Health Risk Likely pathogenic —
RS2519112476 EBP Health Risk Pathogenic —
RS2519115447 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2519115726 CACNA1F Health Risk Pathogenic —
RS2519121172 TUBGCP6 Health Risk Pathogenic —
RS2519121332 PCNT Health Risk Pathogenic —
RS2519122368 TUBGCP6 Health Risk Likely pathogenic Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1
RS2519123259 CACNA1F Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519124587 CACNA1F Health Risk Likely pathogenic —
RS2519124670 TUBGCP6 Health Risk Pathogenic —
RS2519124859 MAOA Health Risk Likely pathogenic —
RS2519125510 CACNA1F Health Risk Pathogenic —
RS2519128240 CACNA1F Health Risk Pathogenic —
RS2519128471 CACNA1F Health Risk Pathogenic —
RS2519130860 CACNA1F Health Risk Pathogenic Congenital stationary night blindness 2A, Congenital stationary night blindness 2A
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