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
RS2539682486 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2539684506 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2539706898 ITGA7 Health Risk Pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS2539707454 ITGA7 Health Risk Pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS2539708151 FKTN Health Risk Likely pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2539708429 FKTN Health Risk Likely pathogenic Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X
RS2539709535 FKTN Health Risk Likely pathogenic Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X
RS2539710078 WDR5 Health Risk Pathogenic —
RS2539710360 FKTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability)
RS2539710750 FKTN Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2539711005 FKTN Health Risk Likely pathogenic Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X
RS2539711496 FKTN Health Risk Likely pathogenic Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X
RS2539712793 FKTN Health Risk Likely pathogenic Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X
RS2539712984 FKTN Health Risk Likely pathogenic Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X
RS2539717285 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2539723743 LRP4 Health Risk Pathogenic Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17
RS2539727043 LRP4 Health Risk Likely pathogenic —
RS2539729986 LRP4 Health Risk Likely pathogenic Congenital myasthenic syndrome 17, Cenani-Lenz syndactyly syndrome
RS2539733866 EXT2 Health Risk Likely pathogenic Exostoses, multiple
RS2539734963 ITGA7 Health Risk Pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS2539739333 BRSK2 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2539740546 BRSK2 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2539741932 LRP4 Health Risk Likely pathogenic Cenani-Lenz syndactyly syndrome, Cenani-Lenz syndactyly syndrome
RS2539746175 LRP4 Health Risk Likely pathogenic Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17
RS2539749192 FKTN Health Risk Pathogenic Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X
RS2539749999 LRP4 Health Risk Pathogenic Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS2539750587 FKTN Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X
RS2539751401 ITGA7 Health Risk Pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS2539759435 LRP4 Health Risk Pathogenic Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS2539762676 CDK5RAP2 Health Risk Pathogenic Microcephaly 3, primary
RS2539766517 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2539766693 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2539767058 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2539767433 PCDH15 Health Risk Pathogenic —
RS2539767594 PCDH15 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2539768291 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2539768600 BRSK2 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS2539768820 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2539768950 PCDH15 Health Risk Likely pathogenic —
RS2539768999 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2539771553 STXBP1 Health Risk Pathogenic —
RS2539771559 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2539777929 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2539777941 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS2539777975 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS2539778271 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2539779929 EXT2 Health Risk Likely pathogenic Exostoses, multiple
RS2539780098 EXT2 Health Risk Likely pathogenic Exostoses, multiple
RS2539783265 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2539783884 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2539784575 HRAS Health Risk Conflicting classifications of pathogenicity Costello syndrome, Cardiovascular phenotype
RS2539792278 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2539797147 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2539797407 HRAS Health Risk Likely pathogenic Vascular malformation, Vascular malformation
RS2539798184 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2539799070 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2539799194 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS2539799215 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS2539799335 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2539799464 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2539801815 PEX5 Health Risk Likely pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2539802611 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS2539802789 PEX5 Health Risk Likely pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2539802827 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2539802835 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS2539809075 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS2539809141 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2539813901 GLUD1 Health Risk Conflicting classifications of pathogenicity Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome
RS2539816286 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS2539816328 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS2539816577 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2539820167 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS2539820308 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS2539820419 GLUD1 Health Risk Pathogenic —
RS2539820425 GLUD1 Health Risk Pathogenic/Likely pathogenic Hyperinsulinism-hyperammonemia syndrome, Familial hyperinsulinism
RS2539820655 STXBP1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Early-infantile DEE
RS2539820701 STXBP1 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2539821402 LOC340512;ZNF462 Health Risk Likely pathogenic Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2539827928 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS2539834004 ZMYND11 Health Risk Conflicting classifications of pathogenicity —
RS2539834154 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2539834585 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2539834708 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2539834747 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2539835039 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS2539835265 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS2539848777 LRRC56 Health Risk Pathogenic/Likely pathogenic Ciliary dyskinesia, primary
RS2539849600 ZMYND11 Health Risk Pathogenic —
RS2539860779 TMEM138 Health Risk Likely pathogenic —
RS2539862950 PAK1 Health Risk Likely pathogenic Intellectual developmental disorder with macrocephaly, seizures
RS2539869968 TMEM138 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 16, Joubert syndrome 16
RS2539874340 ZMYND11 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 30
RS2539890521 TMEM216 Health Risk Likely pathogenic Joubert syndrome 2, Joubert syndrome 2
RS2539891609 TMEM216 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2539891669 TMEM216 Health Risk Likely pathogenic Joubert syndrome 2, Joubert syndrome 2
RS2539891739 TMEM216 Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS2539892764 TMEM216 Health Risk Likely pathogenic Joubert syndrome 2, Joubert syndrome 2
RS2539892774 TMEM216 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2539892830 TMEM216 Health Risk Likely pathogenic Joubert syndrome 2, Joubert syndrome 2
RS2539892835 TMEM216 Health Risk Pathogenic Joubert syndrome 2, Joubert syndrome 2
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