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
RS1554852789 SUFU Health Risk Likely pathogenic —
RS1554852945 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554853026 ABCC2 Health Risk Pathogenic —
RS1554853606 ABCC2 Health Risk Conflicting classifications of pathogenicity —
RS1554853667 VPS13B Health Risk Pathogenic Cohen syndrome, VPS13B-related disorder
RS1554853676 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554853682 SLC52A2 Health Risk Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
RS1554853875 SLC52A2 Health Risk Likely pathogenic —
RS1554854044 SLC52A2 Health Risk Pathogenic Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
RS1554854341 SLC52A2 Health Risk Likely pathogenic Sensorineural hearing loss disorder, Brown-Vialetto-van Laere syndrome 2
RS1554854612 ABCC2 Health Risk Pathogenic —
RS1554856032 PAX2 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 7, Renal coloboma syndrome
RS1554856034 PAX2 Health Risk Pathogenic —
RS1554856042 CDH23 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12
RS1554857529 CDHR1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1554857840 CDH23 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS1554857855 FANCC Health Risk Likely pathogenic —
RS1554858130 KIF11 Health Risk Pathogenic/Likely pathogenic —
RS1554858249 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS1554858698 CDH23 Health Risk Pathogenic/Likely pathogenic —
RS1554859292 EHMT1 Health Risk Pathogenic —
RS1554859309 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS1554859344 KIF11 Health Risk Pathogenic —
RS1554859399 KIF11 Health Risk Likely pathogenic —
RS1554859966 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS1554860819 KIF11 Health Risk Likely pathogenic —
RS1554861288 CFAP43 Health Risk Pathogenic Spermatogenic failure 19, Spermatogenic failure 19
RS1554861545 KIF11 Health Risk Conflicting classifications of pathogenicity Microcephaly with or without chorioretinopathy, lymphedema
RS1554862197 KIF11 Health Risk Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS1554862218 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS1554862262 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS1554862423 KIF11 Health Risk Pathogenic —
RS1554862427 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS1554862601 CPSF1 Health Risk Pathogenic Myopia 27, Myopia 27
RS1554862953 CFAP43 Health Risk Pathogenic Spermatogenic failure 19, Spermatogenic failure 19
RS1554863016 KIF11 Health Risk Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS1554863044 KIF11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554863182 KIF11 Health Risk Likely pathogenic —
RS1554863201 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS1554863246 KIF11 Health Risk Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS1554864404 LIPA Health Risk Likely pathogenic Cholesteryl ester storage disease, Cholesteryl ester storage disease
RS1554864768 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS1554865146 PAX2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554865199 LIPA Health Risk Likely pathogenic Cholesteryl ester storage disease, Cholesteryl ester storage disease
RS1554865206 LIPA Health Risk Pathogenic Wolman disease, Cholesteryl ester storage disease
RS1554865214 LIPA Health Risk Likely pathogenic Wolman disease, Cholesteryl ester storage disease
RS1554865576 LIPA Health Risk Pathogenic Wolman disease, Wolman disease
RS1554865817 LIPA Health Risk Conflicting classifications of pathogenicity LIPA-related disorder, LIPA-related disorder
RS1554866004 LIPA Health Risk Pathogenic Cholesteryl ester storage disease, Wolman disease
RS1554866097 LIPA Health Risk Likely pathogenic Lysosomal acid lipase deficiency, Wolman disease
RS1554867189 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1554867698 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS1554867753 PRF1 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS1554867854 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS1554869292 LIPA Health Risk Likely pathogenic Cholesteryl ester storage disease, Cholesteryl ester storage disease
RS1554869370 PAPSS2 Health Risk Likely pathogenic —
RS1554871138 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1554871182 EHMT1 Health Risk Pathogenic —
RS1554871810 SLC39A4 Health Risk Likely pathogenic Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS1554871816 CDH23 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12
RS1554872194 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1554872740 SLC39A4 Health Risk Likely pathogenic Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS1554873550 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS1554873649 SLC39A4 Health Risk Likely pathogenic Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS1554873833 ERCC6 Health Risk Pathogenic —
RS1554873950 ERCC6 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
RS1554873973 ERCC6 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS1554874073 ERCC6 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
RS1554874130 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS1554874148 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS1554874373 CDH23 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12
RS1554874859 ATAD1 Health Risk Pathogenic/Likely pathogenic Hyperekplexia 4, Hyperekplexia 4
RS1554874879 CDH23 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12
RS1554874884 CDH23 Health Risk Pathogenic —
RS1554874900 CDH23 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS1554875114 ERCC6 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS1554875154 ERCC6 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS1554875155 ERCC6 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
RS1554875287 ERCC6 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS1554875409 BAG3 Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Cardiovascular phenotype
RS1554875522 ERCC6 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS1554875536 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome
RS1554876984 BAG3 Health Risk Pathogenic Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS1554876990 CDH23 Health Risk Pathogenic —
RS1554876999 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS1554877001 BAG3 Health Risk Pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1HH
RS1554877007 CDH23 Health Risk Pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS1554877037 BAG3 Health Risk Likely pathogenic —
RS1554877224 BAG3 Health Risk Pathogenic Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS1554877731 BAG3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1554877765 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS1554877797 CDH23 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12
RS1554877806 CDH23 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Pituitary adenoma 5
RS1554878076 TONSL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1554879059 VPS13A Health Risk Likely pathogenic —
RS1554879411 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1554879633 EHMT1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554879741 PSAP Health Risk Likely pathogenic Combined PSAP deficiency, Krabbe disease due to saposin A deficiency
RS1554879785 PSAP Health Risk Likely pathogenic —
RS1554879846 CYP17A1 Health Risk Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
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