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
RS2482687881 CFB Health Risk Likely pathogenic Complement factor b deficiency, Complement factor b deficiency
RS2482690290 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2482690458 ZAP70 Health Risk Pathogenic Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
RS2482690509 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482690703 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482690956 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2482708060 TNFAIP3 Health Risk Pathogenic —
RS2482709868 TNFAIP3 Health Risk Pathogenic —
RS2482725233 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2482725469 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482725528 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482726726 TNFAIP3 Health Risk Pathogenic —
RS2482727350 TNFAIP3 Health Risk Likely pathogenic Autoinflammatory syndrome, familial
RS2482729637 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2482733805 TNFAIP3 Health Risk Pathogenic —
RS2482735559 HIVEP2 Health Risk Conflicting classifications of pathogenicity —
RS2482735643 TNFAIP3 Health Risk Pathogenic —
RS2482736603 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2482736672 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2482737064 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2482737363 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482741381 ZAP70 Health Risk Pathogenic Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
RS2482743566 TNFAIP3 Health Risk Pathogenic Autoinflammatory syndrome, familial
RS2482749858 TNFAIP3 Health Risk Pathogenic —
RS2482750192 TNFAIP3 Health Risk Pathogenic/Likely pathogenic Autoinflammatory syndrome, familial
RS2482752267 TNFAIP3 Health Risk Pathogenic —
RS2482753368 TNFAIP3 Health Risk Pathogenic —
RS2482756016 ZAP70 Health Risk Likely pathogenic Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
RS2482757985 TNFAIP3 Health Risk Pathogenic —
RS2482759087 TNFAIP3 Health Risk Pathogenic —
RS2482764108 GABBR1 Health Risk Likely pathogenic Delayed speech and language development, Intellectual disability
RS2482766787 ZAP70 Health Risk Pathogenic Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
RS2482767087 LAMA2 Health Risk Pathogenic Inborn genetic diseases, Merosin deficient congenital muscular dystrophy
RS2482767348 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2482767452 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2482772444 TNFAIP3 Health Risk Pathogenic —
RS2482772626 HIVEP2 Health Risk Pathogenic —
RS2482772851 HIVEP2 Health Risk Pathogenic Intellectual disability, autosomal dominant 43
RS2482774022 HIVEP2 Health Risk Pathogenic Intellectual disability, autosomal dominant 43
RS2482775510 MICAL1 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial temporal lobe
RS2482776118 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2482776142 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482776159 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2482776338 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2482776429 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482776474 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2482776508 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2482776881 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482776932 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2482777785 LAMA2 Health Risk Likely pathogenic —
RS2482777806 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2482777827 LAMA2 Health Risk Likely pathogenic —
RS2482794327 ASCC3 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 81
RS2482796579 HIVEP2 Health Risk Likely pathogenic HIVEP2-related disorder, HIVEP2-related disorder
RS2482798077 MED23 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2482809051 ASCC3 Health Risk Likely pathogenic ASCC3-related disorder, ASCC3-related disorder
RS2482810069 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2482810190 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2482811651 HIVEP2 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 43
RS2482814588 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2482819366 HIVEP2 Health Risk Pathogenic —
RS2482820753 HIVEP2 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 43
RS2482822001 HIVEP2 Health Risk Pathogenic —
RS2482829253 HIVEP2 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 43
RS2482830872 HIVEP2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2482835520 HIVEP2 Health Risk Pathogenic —
RS2482835597 HIVEP2 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 43
RS2482839679 HIVEP2 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 43
RS2482848939 SLC35A1 Health Risk Pathogenic SLC35A1-congenital disorder of glycosylation, SLC35A1-congenital disorder of glycosylation
RS2482849173 HIVEP2 Health Risk Pathogenic —
RS2482852662 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS2482856946 HIVEP2 Health Risk Pathogenic —
RS2482857854 HIVEP2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 43
RS2482859580 HIVEP2 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 43
RS2482863935 SKIC2 Health Risk Pathogenic —
RS2482868678 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS2482870790 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS2482870919 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS2482871841 ZBTB24 Health Risk Likely pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS2482872102 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS2482872147 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS2482876788 SKIC2 Health Risk Pathogenic —
RS2482879619 ZBTB24 Health Risk Likely pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS2482880722 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS2482880840 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS2482880948 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS2482881066 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS2482881376 ZBTB24 Health Risk Likely pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS2482881880 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS2482881977 SKIC2 Health Risk Pathogenic —
RS2482882524 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS2482882627 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS2482882661 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS2482882746 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS2482883121 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS2482883789 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS2482887587 SKIC2 Health Risk Pathogenic —
RS2482889698 SKIC2 Health Risk Pathogenic —
RS2482889886 SKIC2 Health Risk Pathogenic —
RS2482891698 POLR1C Health Risk Likely pathogenic POLR1C-related disorder, POLR1C-related disorder
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