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
RS2132635739 ERCC6 Health Risk Pathogenic —
RS2132635786 ERCC6 Health Risk Likely pathogenic —
RS2132639011 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2132639937 ERCC6 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome, Cockayne syndrome
RS2132649260 ANK3 Health Risk Likely pathogenic Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
RS2132656224 RET Health Risk Likely pathogenic Multiple endocrine neoplasia, type 2
RS2132658120 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS2132661449 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS2132662772 RET Health Risk Pathogenic Multiple endocrine neoplasia, type 2
RS2132663101 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS2132663525 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2132664369 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2132664539 CDH23 Health Risk Likely pathogenic —
RS2132664970 RET Health Risk Pathogenic Multiple endocrine neoplasia, type 2
RS2132664999 RET Health Risk Pathogenic Multiple endocrine neoplasia, type 2
RS2132669171 WAC Health Risk Likely pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS2132669206 WAC Health Risk Pathogenic —
RS2132669331 WAC Health Risk Conflicting classifications of pathogenicity DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS2132669368 WAC Health Risk Likely pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS2132669396 CDH23 Health Risk Pathogenic —
RS2132674092 CDH23 Health Risk Pathogenic —
RS2132678154 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS2132678531 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS2132682690 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2132682822 CDH23 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12
RS2132683271 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132683277 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132689832 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132690733 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2132690786 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132702182 EGR2 Health Risk Pathogenic Dejerine-Sottas disease, Dejerine-Sottas disease
RS2132702519 EGR2 Health Risk Pathogenic Dejerine-Sottas disease, Dejerine-Sottas disease
RS2132702633 NFIB Health Risk Pathogenic/Likely pathogenic Macrocephaly, acquired
RS2132702648 NFIB Health Risk Likely pathogenic Macrocephaly, acquired
RS2132704027 NFIB Health Risk Likely pathogenic Macrocephaly, acquired
RS2132704082 NFIB Health Risk Pathogenic/Likely pathogenic Macrocephaly, acquired
RS2132704748 FKTN Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS2132705726 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS2132708181 RET Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS2132709323 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS2132709474 ODAD2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 23, Primary ciliary dyskinesia
RS2132709607 WAC Health Risk Likely pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS2132717812 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132718410 NTRK2 Health Risk Conflicting classifications of pathogenicity Obesity, hyperphagia
RS2132721114 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS2132727940 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2132728101 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2132728144 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2132728269 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2132728587 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2132728639 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132732963 CDH23 Health Risk Likely pathogenic —
RS2132733369 CDH23 Health Risk Pathogenic —
RS2132733452 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2132735050 CHAT Health Risk Pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2132735749 CHAT Health Risk Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2132739739 CDH23 Health Risk Pathogenic —
RS2132740161 CDH23 Health Risk Pathogenic —
RS2132740263 CDH23 Health Risk Conflicting classifications of pathogenicity Ear malformation, Autosomal recessive nonsyndromic hearing loss 12
RS2132745856 CDH23 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12
RS2132746693 RET Health Risk Conflicting classifications of pathogenicity Familial medullary thyroid carcinoma, Hereditary cancer-predisposing syndrome
RS2132747295 RET Health Risk Pathogenic Multiple endocrine neoplasia, type 2
RS2132747882 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS2132751512 CDH23 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome
RS2132751525 CDH23 Health Risk Likely pathogenic Hearing impairment, Retinal dystrophy
RS2132756010 CRB2 Health Risk Conflicting classifications of pathogenicity —
RS2132760566 CRB2 Health Risk Pathogenic —
RS2132760607 CDH23 Health Risk Pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2132766849 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS2132767341 RET Health Risk Pathogenic Multiple endocrine neoplasia, type 2
RS2132767932 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS2132768560 RET Health Risk Pathogenic Multiple endocrine neoplasia, type 2
RS2132776227 RET Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS2132776895 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS2132777851 RET Health Risk Likely pathogenic Hirschsprung disease, susceptibility to
RS2132777891 RET Health Risk Likely pathogenic Multiple endocrine neoplasia, type 2
RS2132781116 CRB2 Health Risk Pathogenic —
RS2132781188 CRB2 Health Risk Pathogenic —
RS2132782773 CDHR1 Health Risk Likely pathogenic Cone-rod dystrophy 15, Cone-rod dystrophy 15
RS2132785331 CELF2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy 97, Developmental and epileptic encephalopathy 97
RS2132785456 CELF2 Health Risk Pathogenic Developmental and epileptic encephalopathy 97, Developmental and epileptic encephalopathy 97
RS2132786780 CELF2 Health Risk Pathogenic Developmental and epileptic encephalopathy 97, Developmental and epileptic encephalopathy 97
RS2132786873 CELF2 Health Risk Pathogenic Developmental and epileptic encephalopathy 97, Developmental and epileptic encephalopathy 97
RS2132790782 FKTN Health Risk Likely pathogenic See cases, See cases
RS2132790961 FKTN Health Risk Likely pathogenic —
RS2132791309 FKTN Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2132792099 FKTN Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2132792543 ERCC6L2 Health Risk Likely pathogenic Pancytopenia-developmental delay syndrome, Pancytopenia-developmental delay syndrome
RS2132792568 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2132792659 FKTN Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2132793967 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, EHMT1-related disorder
RS2132795062 CDHR1 Health Risk Pathogenic —
RS2132800007 CDH23 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12
RS2132800019 CDH23 Health Risk Pathogenic —
RS2132800044 FKTN Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS2132800290 CDH23 Health Risk Likely pathogenic —
RS2132800552 FKTN Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2132802457 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132802825 FKTN Health Risk Likely pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2132803759 CDHR1 Health Risk Pathogenic —
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