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
RS2150302151 ADGRV1 Health Risk Likely pathogenic Hearing impairment, Hearing impairment
RS2150304155 CUL7 Health Risk Pathogenic —
RS2150304168 CUL7 Health Risk Pathogenic 3M syndrome 1, 3M syndrome 1
RS2150304327 ETFDH Health Risk Pathogenic Glutaric acidemia IIc, Multiple acyl-CoA dehydrogenase deficiency
RS2150304339 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2150304342 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2150304416 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2150304426 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2150304734 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2150305196 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2150305273 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2150305297 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2150305310 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2150305321 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2150306282 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2150306551 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2150306625 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2150311017 CUL7 Health Risk Pathogenic —
RS2150311349 C6 Health Risk Likely pathogenic —
RS2150311734 ETFDH Health Risk Pathogenic Glutaric acidemia iic, late-onset
RS2150312193 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2150312216 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2150312228 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2150312280 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2150312288 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2150312299 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2150312312 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2150312322 ETFDH Health Risk Likely pathogenic Abnormality of metabolism/homeostasis, Abnormality of metabolism/homeostasis
RS2150313758 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2150313808 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2150315525 CAMK2A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 53
RS2150316275 CUL7 Health Risk Pathogenic —
RS2150317151 CUL7 Health Risk Likely pathogenic 3M syndrome 1, 3M syndrome 1
RS2150319815 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2150319909 EYS Health Risk Pathogenic —
RS2150319911 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2150319960 EYS Health Risk Pathogenic —
RS2150319989 EYS Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2150319997 EYS Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2150320007 EYS Health Risk Pathogenic —
RS2150320060 CUL7 Health Risk Likely pathogenic 3M syndrome 1, 3M syndrome 1
RS2150320461 ADGRV1 Health Risk Pathogenic —
RS2150321832 CUL7 Health Risk Likely pathogenic 3M syndrome 1, 3M syndrome 1
RS2150323046 CUL7 Health Risk Pathogenic —
RS2150324612 CTNNA1 Health Risk Likely pathogenic —
RS2150327232 EYS Health Risk Pathogenic —
RS2150327300 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2150327364 EYS Health Risk Likely pathogenic —
RS2150328611 CUL7 Health Risk Pathogenic —
RS2150328634 CUL7 Health Risk Pathogenic 3M syndrome 1, 3M syndrome 1
RS2150329160 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS2150329422 PKHD1 Health Risk Pathogenic Enlarged kidney, Hyperechogenic kidneys
RS2150329535 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS2150332431 CUL7 Health Risk Likely pathogenic —
RS2150332479 CUL7 Health Risk Pathogenic —
RS2150332568 CUL7 Health Risk Pathogenic —
RS2150334022 CTNNA1 Health Risk Pathogenic Colorectal cancer, Hereditary cancer-predisposing syndrome
RS2150334188 CTNNA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2150335187 CTNNA1 Health Risk Pathogenic —
RS2150335211 CTNNA1 Health Risk Likely pathogenic —
RS2150335225 CTNNA1 Health Risk Likely pathogenic —
RS2150335339 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2150336916 CTNNA1 Health Risk Likely pathogenic Colorectal cancer, Colorectal cancer
RS2150337651 CTNNA1 Health Risk Likely pathogenic —
RS2150337928 EYS Health Risk Pathogenic —
RS2150338009 EYS Health Risk Pathogenic —
RS2150338012 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2150339586 TNPO3 Health Risk Likely pathogenic —
RS2150346053 TCOF1 Health Risk Likely pathogenic —
RS2150349160 CTNNA1 Health Risk Pathogenic —
RS2150350376 NEB Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2150351826 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2150351865 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2150357621 KCNQ5 Health Risk Pathogenic —
RS2150359133 ADGRV1 Health Risk Pathogenic —
RS2150359366 CTNNA1 Health Risk Likely pathogenic Craniosynostosis syndrome, Craniosynostosis syndrome
RS2150359552 CTNNA1 Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS2150361119 CPLANE1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome type 6, Orofaciodigital syndrome type 6
RS2150361489 CPLANE1 Health Risk Likely pathogenic —
RS2150361736 CPLANE1 Health Risk Pathogenic —
RS2150362152 RUNX2 Health Risk Pathogenic —
RS2150362256 RUNX2 Health Risk Pathogenic —
RS2150362292 RUNX2 Health Risk Pathogenic —
RS2150362526 RUNX2 Health Risk Pathogenic —
RS2150362649 RUNX2 Health Risk Pathogenic RUNX2-related disorder, RUNX2-related disorder
RS2150362655 RUNX2 Health Risk Pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS2150362661 RUNX2 Health Risk Pathogenic —
RS2150362678 RUNX2 Health Risk Pathogenic —
RS2150362681 RUNX2 Health Risk Pathogenic —
RS2150362688 RUNX2 Health Risk Pathogenic —
RS2150363733 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2150365416 CPLANE1 Health Risk Likely pathogenic —
RS2150365452 EYS Health Risk Likely pathogenic —
RS2150367118 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2150368149 RUNX2 Health Risk Likely pathogenic —
RS2150368206 RUNX2 Health Risk Pathogenic —
RS2150368229 RUNX2 Health Risk Pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS2150368246 RUNX2 Health Risk Pathogenic Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome, Cleidocranial dysostosis
RS2150368254 RUNX2 Health Risk Pathogenic/Likely pathogenic Cleidocranial dysostosis, Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
RS2150371825 RUNX2 Health Risk Pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
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