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
RS2537449848 NSMCE2 Health Risk Pathogenic —
RS2537450220 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2537450886 SYNGAP1 Health Risk Likely pathogenic SYNGAP1-related disorder, SYNGAP1-related disorder
RS2537451492 SYNGAP1 Health Risk Pathogenic —
RS2537452061 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2537452533 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2537453071 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS2537453391 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2537453727 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2537453921 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2537459268 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2537472769 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS2537475263 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2537475410 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS2537475927 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2537480235 TONSL Health Risk Pathogenic —
RS2537481541 TONSL Health Risk Pathogenic —
RS2537483665 TONSL Health Risk Likely pathogenic Sponastrime dysplasia, Sponastrime dysplasia
RS2537487155 TONSL Health Risk Pathogenic —
RS2537488321 TONSL Health Risk Pathogenic —
RS2537499869 TONSL Health Risk Likely pathogenic Sponastrime dysplasia, Sponastrime dysplasia
RS2537502482 TONSL Health Risk Pathogenic —
RS2537506170 TONSL Health Risk Pathogenic —
RS2537506917 TONSL Health Risk Likely pathogenic TONSL-related disorder, TONSL-related disorder
RS2537508009 TONSL Health Risk Pathogenic/Likely pathogenic TONSL-related disorder, TONSL-related disorder
RS2537511560 TONSL Health Risk Likely pathogenic —
RS2537511614 TONSL Health Risk Pathogenic —
RS2537512231 TONSL Health Risk Likely pathogenic —
RS2537516964 VPS13A Health Risk Pathogenic —
RS2537517002 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS2537519119 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5C, with pyloric atresia
RS2537521414 ZFTRAF1 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia and gross motor and speech delay, Neurodevelopmental disorder with hypotonia and gross motor and speech delay
RS2537521721 VPS13A Health Risk Pathogenic —
RS2537521774 ZFTRAF1 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and gross motor and speech delay, Neurodevelopmental disorder with hypotonia and gross motor and speech delay
RS2537521833 VPS13A Health Risk Pathogenic —
RS2537530774 ZFTRAF1 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and gross motor and speech delay, Neurodevelopmental disorder with hypotonia and gross motor and speech delay
RS2537536904 FREM1 Health Risk Likely pathogenic Oculotrichoanal syndrome, Oculotrichoanal syndrome
RS2537538964 VPS13A Health Risk Pathogenic —
RS2537539083 KIF1A Health Risk Pathogenic Hereditary spastic paraplegia 30, Neuropathy
RS2537558012 DOCK8 Health Risk Likely pathogenic DOCK8-related disorder, DOCK8-related disorder
RS2537560344 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2537569171 TG Health Risk Pathogenic —
RS2537570064 TG Health Risk Pathogenic —
RS2537570239 SNX14 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20
RS2537586034 MPDZ Health Risk Pathogenic —
RS2537589468 VARS1 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, seizures
RS2537595474 VPS13A Health Risk Likely pathogenic —
RS2537595478 VPS13A Health Risk Pathogenic/Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS2537596049 VPS13A Health Risk Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS2537596293 VPS13A Health Risk Likely pathogenic —
RS2537599374 VARS1 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, seizures
RS2537602940 VPS13A Health Risk Pathogenic —
RS2537603710 VPS13A Health Risk Likely pathogenic —
RS2537629962 VPS13A Health Risk Pathogenic —
RS2537630096 VPS13A Health Risk Pathogenic —
RS2537640975 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2537641323 ARID1B Health Risk Likely pathogenic Global developmental delay, Global developmental delay
RS2537641958 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2537652626 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS2537666515 VPS13A Health Risk Pathogenic —
RS2537667918 VPS13A Health Risk Pathogenic —
RS2537669686 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS2537669983 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2537670864 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS2537702005 VPS13A Health Risk Pathogenic —
RS2537702433 FREM1 Health Risk Pathogenic BNAR syndrome, BNAR syndrome
RS2537710137 AGTPBP1 Health Risk Likely pathogenic Neurodegeneration, childhood-onset
RS2537713123 VPS13A Health Risk Likely pathogenic —
RS2537713398 VPS13A Health Risk Pathogenic —
RS2537713873 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2537716968 TG Health Risk Pathogenic —
RS2537720984 VPS13A Health Risk Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS2537729498 KIF1A Health Risk Pathogenic Hereditary spastic paraplegia 30, Neuropathy
RS2537729643 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex with nail dystrophy
RS2537735975 TG Health Risk Likely pathogenic Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS2537770319 DPYS Health Risk Pathogenic —
RS2537770775 DPYS Health Risk Likely pathogenic Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency
RS2537771120 MNX1 Health Risk Likely pathogenic MNX1-related disorder, Abnormality of the vertebral column
RS2537773911 MNX1 Health Risk Likely pathogenic MNX1-related disorder, MNX1-related disorder
RS2537774020 MNX1 Health Risk Pathogenic —
RS2537774041 MNX1 Health Risk Likely pathogenic —
RS2537775651 NTHL1 Health Risk Pathogenic —
RS2537779184 PLEC Health Risk Likely pathogenic Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex with nail dystrophy
RS2537780039 MNX1 Health Risk Pathogenic —
RS2537780127 MNX1 Health Risk Pathogenic/Likely pathogenic MNX1-related disorder, MNX1-related disorder
RS2537780168 MNX1 Health Risk Pathogenic Currarino triad, Currarino triad
RS2537780831 MNX1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2537781329 MNX1 Health Risk Pathogenic Currarino triad, Currarino triad
RS2537781362 MNX1 Health Risk Pathogenic —
RS2537781555 MNX1 Health Risk Pathogenic —
RS2537803859 VPS13A Health Risk Pathogenic —
RS2537804052 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS2537812623 VPS13A Health Risk Pathogenic —
RS2537813053 VPS13A Health Risk Pathogenic —
RS2537813639 DNAAF11 Health Risk Pathogenic Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19
RS2537814042 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS2537814830 TG Health Risk Pathogenic —
RS2537816225 VPS13A Health Risk Pathogenic —
RS2537816345 VPS13A Health Risk Pathogenic —
RS2537816494 VPS13A Health Risk Pathogenic —
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