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
RS185661693 CIROP Health Risk Conflicting classifications of pathogenicity Heterotaxy, visceral
RS1856640613 SPTAN1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 5
RS185664269 CEP104 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 25, Inborn genetic diseases
RS185664502 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS1856647848 SPTAN1 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS185665930 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Inborn genetic diseases
RS185667241 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS185667326 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS1856699646 BBS1 Health Risk Likely pathogenic Retinal dystrophy, Bardet-Biedl syndrome
RS185672882 GATA3 Health Risk Pathogenic —
RS1856741568 NARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS185674525 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS1856758582 BBS1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Bardet-Biedl syndrome 1
RS1856775300 KMT5B Health Risk Likely pathogenic —
RS1856779339 KMT5B Health Risk Pathogenic Intellectual disability, autosomal dominant 51
RS185678374 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS1856785950 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1856787758 BBS1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1856787943 ASCC1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1856788934 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1856790811 BBS1 Health Risk Likely pathogenic Retinal dystrophy, Bardet-Biedl syndrome 1
RS1856793994 ASCC1 Health Risk Likely pathogenic Spinal muscular atrophy with congenital bone fractures 2, Spinal muscular atrophy with congenital bone fractures 2
RS185681684 MYLK Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Aortic aneurysm
RS185681814 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS185682596 MBOAT7 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 57
RS185683410 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS185688419 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS185688918 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS185689179 TTN Health Risk Conflicting classifications of pathogenicity —
RS185689321 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS185689791 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS1856908 CYP2C9 Health Risk association Pulmonary disease, chronic obstructive
RS1856914827 PDE2A Health Risk Pathogenic Intellectual developmental disorder with paroxysmal dyskinesia or seizures, Intellectual developmental disorder with paroxysmal dyskinesia or seizures
RS1856940653 C2CD3 Health Risk Pathogenic —
RS1856949467 C2CD3 Health Risk Likely pathogenic Rudimentary fibula, Ankle flexion contracture
RS185701616 GORAB Health Risk Conflicting classifications of pathogenicity Geroderma osteodysplastica, Geroderma osteodysplastica
RS1857071943 KAT5 Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies, sleep disturbance
RS185711494 NDUFS4 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS185712951 PIGG Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 53
RS185715311 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Retinal dystrophy
RS185715460 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS185719200 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS185719774 UPB1 Health Risk Conflicting classifications of pathogenicity Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
RS185720909 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS1857215256 KAT5 Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies, sleep disturbance
RS185727761 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 45
RS185727779 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS185728047 NPAT Health Risk Conflicting classifications of pathogenicity —
RS1857290083 KAT5 Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies, sleep disturbance
RS185729138 TNRC18 Health Risk Conflicting classifications of pathogenicity —
RS185729337 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, Retinal dystrophy
RS1857335838 RNASEH2C Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 3, Aicardi-Goutieres syndrome 3
RS185736569 MCPH1 Health Risk Conflicting classifications of pathogenicity —
RS185737007 PABPC1L Health Risk Conflicting classifications of pathogenicity —
RS185737637 MCIDAS Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, MCIDAS-related disorder
RS185741664 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS1857435780 CDH23 Health Risk Pathogenic/Likely pathogenic Pituitary adenoma 5, multiple types
RS1857438656 CDH23 Health Risk Pathogenic —
RS185745349 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS185745657 FKTN Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS185746835 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary dilated cardiomyopathy
RS185747820 GRHPR Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type II
RS185748200 MYO7A Health Risk Pathogenic Usher syndrome type 1B, MYO7A-related disorder
RS1857487337 TMEM151A Health Risk Pathogenic Episodic kinesigenic dyskinesia 3, Episodic kinesigenic dyskinesia 3
RS185748978 FOXN1 Health Risk Conflicting classifications of pathogenicity T-cell immunodeficiency, congenital alopecia
RS185749010 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Retinal dystrophy
RS1857505875 TMEM151A Health Risk Pathogenic Episodic kinesigenic dyskinesia 3, Episodic kinesigenic dyskinesia 3
RS185753709 PKLR Health Risk Likely pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS185760342 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS185764548 HEXA Health Risk Conflicting classifications of pathogenicity Tay-Sachs disease, Tay-Sachs disease
RS185769412 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS185769891 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS185771112 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group I, Fanconi anemia
RS1857745217 CDH23 Health Risk Pathogenic —
RS1857755312 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS185779788 ERCC4 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group F
RS185790172 GJB2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 1A, Ichthyosis
RS185794093 EPB42 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS185796429 XIRP2 Health Risk Conflicting classifications of pathogenicity —
RS185797496 HEXA Health Risk Conflicting classifications of pathogenicity Tay-Sachs disease, Tay-Sachs disease
RS1857975142 CTSF Health Risk Pathogenic —
RS1857975521 CTSF Health Risk Pathogenic —
RS1857984449 CTSF Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1858012761 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS185801522 KATNIP Health Risk Conflicting classifications of pathogenicity —
RS185802314 MYO18B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MYO18B-related disorder
RS185802741 CCDC88C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS185803104 HOGA1 Health Risk Pathogenic Primary hyperoxaluria type 3, HOGA1-related disorder
RS185803317 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS185805779 GCNT2 Health Risk Pathogenic Cataract 13 with adult I phenotype, GCNT2-related disorder
RS1858067021 IGHMBP2 Health Risk Likely pathogenic Spinal muscular atrophy, Spinal muscular atrophy
RS185811440 SCP2 Health Risk Conflicting classifications of pathogenicity SCP2-related disorder, SCP2-related disorder
RS185811990 MEGF8 Health Risk Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome, Inborn genetic diseases
RS185813423 ATR Health Risk Conflicting classifications of pathogenicity —
RS185815387 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS185815454 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1858185076 IGHMBP2 Health Risk Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS185821167 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS1858280736 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS185829251 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Synaptic congenital myasthenic syndromes
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