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
RS1870765797 TBX5 Health Risk Likely pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1870766319 TBX5 Health Risk Likely pathogenic —
RS187080747 SLC39A4 Health Risk Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS187081192 TBCD Health Risk Conflicting classifications of pathogenicity Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Inborn genetic diseases
RS187082127 GNB4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS187082481 FAN1 Health Risk Conflicting classifications of pathogenicity Karyomegalic interstitial nephritis, FAN1-related disorder
RS1870837900 LEMD3 Health Risk Pathogenic Dermatofibrosis lenticularis disseminata, Dermatofibrosis lenticularis disseminata
RS187089611 UNC80 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hypotonia
RS1870918105 LEMD3 Health Risk Pathogenic —
RS187093021 LTBP4 Health Risk Conflicting classifications of pathogenicity LTBP4-related disorder, LTBP4-related disorder
RS187099741 TBCD Health Risk Likely pathogenic —
RS187104739 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS187112709 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS187116049 PROM1 Health Risk Conflicting classifications of pathogenicity Stargardt disease 4, Cone-rod dystrophy 12
RS187119693 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS187124232 FOXRED1 Health Risk Conflicting classifications of pathogenicity —
RS187131358 PFKM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type VII
RS1871323193 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1871323854 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS187132771 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1871328488 TBX5 Health Risk Pathogenic Aortic valve disease 2, TBX5-related disorder
RS1871328960 TBX5 Health Risk Likely pathogenic Aortic valve disease 2, Aortic valve disease 2
RS187139957 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS187140236 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS1871420455 PPP1R12A Health Risk Likely pathogenic Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome
RS1871420871 PPP1R12A Health Risk Likely pathogenic Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome
RS187147906 USH1C Health Risk Conflicting classifications of pathogenicity —
RS187149431 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 4
RS187150565 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS187153114 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Inborn genetic diseases
RS187156346 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS1871565914 GLI1 Health Risk Likely pathogenic Polydactyly, postaxial
RS1871568678 TBX5 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Aortic valve disease 2
RS187158699 GJB2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 1A, Ichthyosis
RS187163584 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS187165412 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS1871659583 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1871662633 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1871663012 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1871673161 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS1871673221 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1871673582 TBX5 Health Risk Pathogenic Aortic valve disease 2, Holt-Oram syndrome
RS1871684539 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS187172581 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS187173652 GCK Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Transient Neonatal Diabetes
RS187173978 ANO3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS187176143 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS1871773510 ITGA7 Health Risk Pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS187177496 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, 8 conditions
RS187178339 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Inborn genetic diseases
RS187180708 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1871830806 TBX5 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Aortic valve disease 2
RS1871830996 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS187184327 CHMP1A Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 8, CHMP1A-related disorder
RS187188981 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SZT2-related disorder
RS187196207 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS1872004016 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS187203579 RECQL Health Risk Conflicting classifications of pathogenicity Hereditary cancer, Hereditary cancer
RS187213125 CEP152 Health Risk Conflicting classifications of pathogenicity Seckel syndrome 5, Microcephaly 9
RS1872134198 MYO1H Health Risk Pathogenic Central hypoventilation syndrome, congenital
RS187213541 TWNK Health Risk Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia
RS187216413 OPA3 Health Risk Conflicting classifications of pathogenicity Optic atrophy 3, 3-Methylglutaconic aciduria type 3
RS187218889 CLRN1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3A, Retinal dystrophy
RS187220094 DOCK2;INSYN2B Health Risk Conflicting classifications of pathogenicity —
RS187221008 WHRN Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome type 2D
RS187221698 CA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1872244528 ITGA7 Health Risk Likely pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS187225056 TELO2 Health Risk Conflicting classifications of pathogenicity TELO2-related intellectual disability-neurodevelopmental disorder, TELO2-related intellectual disability-neurodevelopmental disorder
RS187225648 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS1872267 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS1872274494 ITGA7 Health Risk Pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS187228739 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, Spastic ataxia 2
RS187229047 ADGRE2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant vibratory urticaria, Autosomal dominant vibratory urticaria
RS187245292 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome and related disorders
RS187248590 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS187249342 FOCAD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FOCAD-related disorder
RS187255209 OTOG Health Risk Conflicting classifications of pathogenicity —
RS187255726 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS187257105 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS1872575522 SMARCC2 Health Risk Likely pathogenic —
RS187259531 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS187264529 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS187264712 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal recessive
RS1872666696 MED13L Health Risk Pathogenic Intellectual disability, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS187270666 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS187272498 TECTA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS187273709 NOBOX Health Risk Conflicting classifications of pathogenicity Premature ovarian failure 5, NOBOX-related disorder
RS187277313 GLUL Health Risk Conflicting classifications of pathogenicity Congenital brain dysgenesis due to glutamine synthetase deficiency, Congenital brain dysgenesis due to glutamine synthetase deficiency
RS187279903 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS187286147 VANGL1 Health Risk Conflicting classifications of pathogenicity Neural tube defect, Sacral defect with anterior meningocele
RS187296782 OPA3 Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS187303187 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 15
RS187308159 PITRM1 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive 30
RS187312469 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS187315526 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS187316301 FGG Health Risk Conflicting classifications of pathogenicity Congenital afibrinogenemia, FGG-related disorder
RS1873193008 SMARCC2 Health Risk Likely pathogenic Coffin-Siris syndrome 8, Coffin-Siris syndrome 8
RS1873228351 B3GLCT Health Risk Likely pathogenic Peters plus syndrome, Peters plus syndrome
RS187325866 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, BNAR syndrome
RS187331667 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
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