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
RS1680695228 MBD5 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 1
RS1680708290 MBD5 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1680716624 HNRNPU Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 54
RS1680725785 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS1680726399 MBD5 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 1
RS1680727391 HNRNPU Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 54
RS1680764134 HNRNPU Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1680764227 HNRNPU Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1680778 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS1680874514 NPHP1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1680921689 HNRNPU Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1680928684 HNRNPU Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1680930166 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS1680936726 HNRNPU Health Risk Pathogenic —
RS1681091117 CCDC88A Health Risk Pathogenic —
RS1681104142 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1681105619 REEP1 Health Risk Likely pathogenic REEP1-related disorder, Hereditary spastic paraplegia 31
RS1681107508 REEP1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 31, Inborn genetic diseases
RS1681147109 MERTK Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1681182291 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS1681222021 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS1681356752 NPHP1 Health Risk Likely pathogenic Joubert syndrome with renal defect, Joubert syndrome with renal defect
RS1681409962 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RYR2-related disorder
RS1681413798 WDPCP Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1681473896 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS1681478115 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS1681481862 MBD5 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1681487356 MBD5 Health Risk Likely pathogenic —
RS1681530018 TBCE Health Risk Pathogenic —
RS1681531187 TBCE Health Risk Likely pathogenic Hypoparathyroidism-retardation-dysmorphism syndrome, Autosomal recessive Kenny-Caffey syndrome
RS1681536460 TBCE Health Risk Pathogenic —
RS1681684655 DGUOK Health Risk Likely pathogenic —
RS1681704644 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1681763241 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1681835024 ST3GAL5 Health Risk Pathogenic/Likely pathogenic Intellectual disability, GM3 synthase deficiency
RS1681946262 EIF2B4 Health Risk Likely pathogenic Vanishing white matter disease, Vanishing white matter disease
RS1681971339 EIF2B4 Health Risk Pathogenic —
RS1681993062 GLI2 Health Risk Pathogenic Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS1682014084 AFF3 Health Risk Likely pathogenic AFF3-associated disorder, AFF3-associated disorder
RS1682025430 EIF2B4 Health Risk Likely pathogenic Vanishing white matter disease, Vanishing white matter disease
RS1682104932 EIF2B4 Health Risk Likely pathogenic Vanishing white matter disease, Vanishing white matter disease
RS1682246203 EIF2B4 Health Risk Likely pathogenic Vanishing white matter disease, Vanishing white matter disease
RS1682321195 TTC7A Health Risk Pathogenic Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1
RS1682400034 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1682404578 RYR2 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1682415237 CYP1B1 Health Risk Pathogenic Glaucoma 3A, Glaucoma 3A
RS1682416281 CYP1B1 Health Risk Conflicting classifications of pathogenicity Congenital glaucoma, Congenital glaucoma
RS1682429616 CYP1B1 Health Risk Pathogenic/Likely pathogenic Anterior segment dysgenesis 6, Inborn genetic diseases
RS1682430086 CYP1B1 Health Risk Pathogenic Congenital glaucoma, Congenital glaucoma
RS1682462329 NPHP1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1682473914 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS1682503990 LZTR1 Health Risk Pathogenic/Likely pathogenic Noonan syndrome 10, Noonan syndrome 2
RS1682512619 CYP1B1 Health Risk Conflicting classifications of pathogenicity Anterior segment dysgenesis 6, Glaucoma 3A
RS1682561583 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1682567886 GLI2 Health Risk Pathogenic Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9
RS1682584195 NPHP1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1682617375 MMADHC Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS1682617973 MMADHC Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS1682632400 MMADHC Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS1682638359 DGUOK Health Risk Pathogenic —
RS1682706954 MMADHC Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS1682720062 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS1682764315 MMADHC Health Risk Pathogenic —
RS1682767587 MMADHC Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS1682776554 GLI2 Health Risk Pathogenic Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS1682806219 MMADHC Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS1682810737 CLCN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital myotonia
RS1682909859 BIN1 Health Risk Conflicting classifications of pathogenicity See cases, Myopathy
RS16830171 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS1683042337 ST3GAL5 Health Risk Pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS1683044033 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS1683047204 ST3GAL5 Health Risk Pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS1683058752 B3GALNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS1683063437 PXDN Health Risk Pathogenic Anterior segment dysgenesis 7, Anterior segment dysgenesis 7
RS1683081860 GLI2 Health Risk Pathogenic —
RS1683090143 KYNU Health Risk Likely pathogenic KYNU-related disorder, KYNU-related disorder
RS1683106396 PTH1R Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, PTH1R-related disorder
RS1683179008 GLI2 Health Risk Pathogenic Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS1683179791 DGUOK Health Risk Likely pathogenic —
RS1683184393 GLI2 Health Risk Pathogenic —
RS1683184865 GLI2 Health Risk Pathogenic/Likely pathogenic Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9
RS1683230082 GLI2 Health Risk Pathogenic Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9
RS1683256077 ITGB6 Health Risk Likely pathogenic Amelogenesis imperfecta type 1H, Amelogenesis imperfecta type 1H
RS1683278500 MECR Health Risk Pathogenic —
RS1683280621 UBAP2L Health Risk Pathogenic —
RS16832868 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS1683415081 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia
RS1683477844 ZNF513 Health Risk Conflicting classifications of pathogenicity —
RS1683490120 ZNF513 Health Risk Likely pathogenic Retinitis pigmentosa 58, Retinitis pigmentosa 58
RS16835020 ALG1 Health Risk Pathogenic Congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1683515617 BBS5 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 5
RS1683533087 IFIH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Singleton-Merten syndrome 1
RS1683644409 BBS5 Health Risk Pathogenic Bardet-Biedl syndrome 5, Bardet-Biedl syndrome 5
RS1683644662 BBS5 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 5
RS1683656584 NPHP1 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS1683749371 NPHP1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome with renal defect, Nephronophthisis
RS16838998 SON Health Risk Conflicting classifications of pathogenicity ZTTK syndrome, ZTTK syndrome
RS1683920780 SLC25A12 Health Risk Likely pathogenic —
RS1683929269 CHRNA1 Health Risk Pathogenic Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS1683982622 LRP2 Health Risk Pathogenic —
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