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
RS2137673691 KCNA1 Health Risk Likely pathogenic —
RS2137673957 KCNA1 Health Risk Likely pathogenic Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS2137673958 KCNA1 Health Risk Pathogenic/Likely pathogenic Episodic kinesigenic dyskinesia, Episodic ataxia type 1
RS2137673961 ATP2A2 Health Risk Pathogenic Keratosis follicularis, Keratosis follicularis
RS2137673966 KCNA1 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 1, Episodic ataxia type 1
RS2137679109 DLAT Health Risk Pathogenic Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency
RS2137688022 SUCLA2 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS2137688148 SUCLA2 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS2137691313 ABCC9 Health Risk Pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS2137691925 ABCC9 Health Risk Likely pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS2137694642 SUCLA2 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS2137698036 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2137700684 DNAH10 Health Risk Pathogenic Spermatogenic failure 56, Spermatogenic failure 56
RS2137703007 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2137703473 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome 1
RS2137704696 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2137705201 KMT2D Health Risk Likely pathogenic Kabuki syndrome, Kabuki syndrome
RS2137706560 KMT2D Health Risk Pathogenic Inborn genetic diseases, Kabuki syndrome
RS2137706790 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2137707267 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2137707335 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2137707354 CEP290 Health Risk Likely pathogenic Nephronophthisis, Joubert syndrome
RS2137708500 PKP2 Health Risk Pathogenic/Likely pathogenic —
RS2137710225 CEP290 Health Risk Likely pathogenic Joubert syndrome 5, Joubert syndrome 5
RS2137710573 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2137710783 KMT2D Health Risk Likely pathogenic Kabuki syndrome, Kabuki syndrome
RS2137710791 KMT2D Health Risk Likely pathogenic Kabuki syndrome, Kabuki syndrome
RS2137710954 DPF2 Health Risk Likely pathogenic —
RS2137711041 DPF2 Health Risk Pathogenic Coffin-Siris syndrome 7, Coffin-Siris syndrome 7
RS2137711145 DPF2 Health Risk Likely pathogenic Coffin-Siris syndrome 7, Coffin-Siris syndrome 7
RS2137711618 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2137711696 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2137712168 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2137713030 CEP290 Health Risk Pathogenic Senior-Loken syndrome 6, Senior-Loken syndrome 6
RS2137714332 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2137715091 KMT2D Health Risk Pathogenic Vein of Galen aneurysmal malformation, Kabuki syndrome
RS2137715433 SUCLA2 Health Risk Pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS2137716138 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137717323 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137718161 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137718533 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137718900 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137719240 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137719772 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137720420 ATP2A2 Health Risk Pathogenic —
RS2137720760 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137720951 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2137721150 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137721367 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137722808 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS2137724246 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137725980 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137726985 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137729385 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137737853 OTOGL Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS2137738321 OTOGL Health Risk Pathogenic —
RS2137742889 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137743400 SUCLA2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS2137743496 SUCLA2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS2137743517 SACS Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2137748028 ABCC9 Health Risk Likely pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS2137772673 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2137773640 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS2137774389 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2137777604 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS2137777670 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2137778300 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2137779120 CEP290 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2137781223 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137783366 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2137805318 B3GLCT Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2137827783 KCNC2 Health Risk Pathogenic Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103
RS2137828445 KCNC2 Health Risk Pathogenic Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103
RS2137829787 PKP2 Health Risk Pathogenic Cardiomyopathy, Cardiomyopathy
RS2137830958 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, PKP2-related disorder
RS2137831087 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2137836218 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2137836547 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS2137837524 ABCC9 Health Risk Pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS2137837678 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2137842716 CDK8 Health Risk Likely pathogenic Intellectual developmental disorder with hypotonia and behavioral abnormalities, Intellectual developmental disorder with hypotonia and behavioral abnormalities
RS2137852356 ABCC9 Health Risk Likely pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS2137856827 ATP2A2 Health Risk Pathogenic Keratosis follicularis, Keratosis follicularis
RS2137862074 PFKM Health Risk Pathogenic Glycogen storage disease, type VII
RS2137863489 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS2137866137 RNASEH2B Health Risk Pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS2137866261 RNASEH2B Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 2, RNASEH2B-related disorder
RS2137866660 RNASEH2B Health Risk Pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS2137868283 ABCC9 Health Risk Pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS2137868361 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2137870396 ATP2A2 Health Risk Pathogenic ATP2A2-related disorder, ATP2A2-related disorder
RS2137874352 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2137874802 ABCC9 Health Risk Likely pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS2137875677 ABCC9 Health Risk Pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS2137876114 ABCC9 Health Risk Pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS2137876491 OTOGL Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B
RS2137877191 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2137878257 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2137879945 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2137881468 B3GLCT Health Risk Likely pathogenic —
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