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
RS2051099941 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2051103531 EFTUD2 Health Risk Likely pathogenic —
RS2051113996 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2051147818 EFTUD2 Health Risk Pathogenic —
RS2051181820 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2051198464 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2051210433 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2051221341 WNT5A Health Risk Likely pathogenic —
RS2051253130 FECH Health Risk Pathogenic —
RS2051284935 EPG5 Health Risk Likely pathogenic Vici syndrome, Vici syndrome
RS2051320206 DAG1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS2051339634 EFTUD2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2051361827 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2051380165 FECH Health Risk Likely pathogenic Autosomal erythropoietic protoporphyria, Autosomal erythropoietic protoporphyria
RS2051382723 HOMER2 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 68, Autosomal dominant nonsyndromic hearing loss 68
RS2051382999 HOMER2 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 68, Autosomal dominant nonsyndromic hearing loss 68
RS2051389040 FECH Health Risk Pathogenic —
RS2051494815 BRCA1 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS2051495579 PLCE1 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS2051500205 BRCA1 Health Risk Pathogenic —
RS2051505994 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2051506626 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2051507325 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2051507892 NARS1 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder with microcephaly
RS2051510661 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2051517323 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS2051521489 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2051527389 RLBP1 Health Risk Pathogenic/Likely pathogenic Pigmentary retinal dystrophy, Newfoundland cone-rod dystrophy
RS2051527499 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2051530949 RLBP1 Health Risk Pathogenic —
RS2051550027 DNAAF19 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2051568716 RLBP1 Health Risk Likely pathogenic RLBP1-related disorder, RLBP1-related disorder
RS2051568988 RLBP1 Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS2051588436 RLBP1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2051605586 RLBP1 Health Risk Pathogenic —
RS2051634469 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2051636517 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2051680751 GFAP Health Risk Likely pathogenic —
RS2051691492 PLCE1 Health Risk Pathogenic Nephrotic syndrome, type 3
RS2051720336 PCDH15 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F
RS2051753978 WWOX Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 28
RS2051756247 WWOX Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 1
RS2051759603 WWOX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS2051760352 PPARG Health Risk Pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2051764612 MYT1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 39
RS2051791551 DNAI2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2051792816 DNAI2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2051819669 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2051825168 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2051830234 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2051832768 CREBBP Health Risk Pathogenic —
RS2051852330 CREBBP Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2051853150 CREBBP Health Risk Conflicting classifications of pathogenicity Neurodevelopmental abnormality, CREBBP-related disorder
RS2051858178 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2051858361 CREBBP Health Risk Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2051863859 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Intellectual disability
RS2051864063 HDAC8 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2051867176 HDAC8 Health Risk Likely pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS2051867806 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2051868691 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2051897517 HDAC8 Health Risk Pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS2051898232 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2051906316 CREBBP Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2051906390 CREBBP Health Risk Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2051906420 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2051909999 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2051913334 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2051924695 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2051925024 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2051927197 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2051929740 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2051931458 BRCA1 Health Risk Likely pathogenic —
RS2051934276 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2051937547 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2051993500 TSPEAR Health Risk Pathogenic Tooth agenesis, selective
RS2052045274 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2052048258 FANCI Health Risk Pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2052056277 CTCF Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2052056650 CTCF Health Risk Pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS2052063931 CTCF Health Risk Pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS2052068772 CTCF Health Risk Conflicting classifications of pathogenicity CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS2052069695 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2052070559 CREBBP Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2052070776 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2052073167 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2052086981 MYT1L Health Risk Pathogenic Intellectual disability, autosomal dominant 39
RS2052089346 MYT1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 39
RS2052127299 CREBBP Health Risk Pathogenic —
RS2052136913 CTCF Health Risk Likely pathogenic CTCF-related disorder, CTCF-related neurodevelopmental disorder
RS2052137160 CTCF Health Risk Likely pathogenic —
RS2052153254 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2052159968 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2052160365 TMEM94 Health Risk Pathogenic/Likely pathogenic Rare syndromic intellectual disability, Intellectual developmental disorder with cardiac defects and dysmorphic facies
RS2052173011 BRCA1 Health Risk Pathogenic —
RS2052178966 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2052181050 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2052186545 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2052190289 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2052193063 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2052201364 TTN;TTN-AS1 Health Risk Likely pathogenic —
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