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
RS1788434582 GNAI1 Health Risk Likely pathogenic —
RS17884349 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1788436294 GNAI1 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, impaired speech
RS17884403 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1788472672 OGDH Health Risk Conflicting classifications of pathogenicity Oxoglutaricaciduria, Oxoglutaricaciduria
RS1788520333 GLI3 Health Risk Pathogenic Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS17885240 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group G
RS1788578357 TWIST1 Health Risk Pathogenic Robinow-Sorauf syndrome, Robinow-Sorauf syndrome
RS1788579980 TWIST1 Health Risk Pathogenic Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS1788580077 TWIST1 Health Risk Likely pathogenic TWIST1-related craniosynostosis, Saethre-Chotzen syndrome
RS1788580326 TWIST1 Health Risk Pathogenic TWIST1-related craniosynostosis, Saethre-Chotzen syndrome
RS1788580776 TWIST1 Health Risk Likely pathogenic TWIST1-related craniosynostosis, Saethre-Chotzen syndrome
RS1788583845 TWIST1 Health Risk Pathogenic TWIST1-related craniosynostosis, Saethre-Chotzen syndrome
RS1788590614 TWIST1 Health Risk Likely pathogenic Saethre-Chotzen syndrome, Saethre-Chotzen syndrome
RS1788590971 TWIST1 Health Risk Conflicting classifications of pathogenicity Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS17886171 FCSK Health Risk Conflicting classifications of pathogenicity FCSK-related disorder, FCSK-related disorder
RS1788661091 ARID1B Health Risk Pathogenic —
RS1788688718 PSPH Health Risk Likely pathogenic Deficiency of phosphoserine phosphatase, Deficiency of phosphoserine phosphatase
RS1788689886 RARS2 Health Risk Pathogenic —
RS1788693733 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1788701297 HGF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 39, Sensorineural hearing loss disorder
RS1788769048 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1788795866 PGM3 Health Risk Pathogenic Immunodeficiency 23, Immunodeficiency 23
RS1788833484 AHI1 Health Risk Pathogenic Joubert syndrome with ocular defect, Joubert syndrome with ocular defect
RS1788834778 AHI1 Health Risk Pathogenic Joubert syndrome 3, Joubert syndrome 3
RS1788846426 AHI1 Health Risk Likely pathogenic Joubert syndrome 3, Joubert syndrome 3
RS1788855011 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS1788863320 GNAI1 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, impaired speech
RS1788864590 GNAI1 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, impaired speech
RS1788925132 ARID1B Health Risk Pathogenic —
RS1788927433 ARID1B Health Risk Pathogenic —
RS1788932771 ARID1B Health Risk Pathogenic —
RS1788943860 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS1789003501 GLI3 Health Risk Pathogenic —
RS1789053 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS1789094697 POR Health Risk Pathogenic/Likely pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
RS1789162289 AHI1 Health Risk Likely pathogenic Joubert syndrome 3, Joubert syndrome 3
RS1789189854 BMPER Health Risk Pathogenic —
RS1789198105 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Inborn genetic diseases
RS1789200069 AHI1 Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS1789346276 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS1789350322 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1789386860 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1789390592 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1789391655 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1789395190 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1789398455 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1789399141 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1789399872 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1789402781 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS1789635793 BLTP1 Health Risk Pathogenic —
RS1789672491 AUTS2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1789680416 GSDME Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1789811451 AUTS2 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1789901930 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS1789927813 AUTS2 Health Risk Pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS1789934246 AUTS2 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental abnormality, Inborn genetic diseases
RS1789979659 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1789997179 ARID1B Health Risk Pathogenic —
RS1790057505 GRIK2 Health Risk Pathogenic Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, Inborn genetic diseases
RS1790058081 GRIK2 Health Risk Pathogenic GRIK2-related neurodevelopmental disorder, 6 conditions
RS1790069483 FKBP14 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type
RS1790081665 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1790085048 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1790093579 TRRAP Health Risk Pathogenic Developmental delay with or without dysmorphic facies and autism, Developmental delay with or without dysmorphic facies and autism
RS1790094262 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1790098079 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1790151629 PRKN Health Risk Likely pathogenic —
RS1790257064 TRRAP Health Risk Pathogenic/Likely pathogenic Developmental delay with or without dysmorphic facies and autism, Inborn genetic diseases
RS1790276091 TBX20 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1790288810 TRRAP Health Risk Pathogenic Developmental delay with or without dysmorphic facies and autism, Developmental delay with or without dysmorphic facies and autism
RS1790398941 PRKN Health Risk Pathogenic —
RS1790443878 GUSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1790506980 RINT1 Health Risk Likely pathogenic —
RS1790560482 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS1790562755 SLC26A4 Health Risk Pathogenic —
RS1790597003 GSDME Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5
RS1790619243 TRRAP Health Risk Conflicting classifications of pathogenicity —
RS1790695219 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS1790697157 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS1790698966 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS1790704642 RINT1 Health Risk Likely pathogenic —
RS1790735071 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS1790781071 RINT1 Health Risk Likely pathogenic —
RS1790785997 RINT1 Health Risk Pathogenic —
RS1790889845 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS1790890770 SLC26A4 Health Risk Likely pathogenic Hearing loss, autosomal recessive
RS1790925351 PKHD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS1790935805 RINT1 Health Risk Likely pathogenic —
RS1790936941 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1790945437 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1790957218 SLC26A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS1790959315 SLC26A4 Health Risk Pathogenic —
RS1791107315 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1791174009 PEX1 Health Risk Pathogenic/Likely pathogenic Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger)
RS1791258447 ASNS Health Risk Pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS1791259662 ASNS Health Risk Pathogenic —
RS1791261153 ASNS Health Risk Pathogenic —
RS1791277284 ASNS Health Risk Likely pathogenic Inborn genetic diseases, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS1791279467 ASNS Health Risk Conflicting classifications of pathogenicity —
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