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
RS2151814082 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151814193 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151814213 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151814381 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151814430 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS2151815985 SKIC2 Health Risk Likely pathogenic —
RS2151816064 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2151816083 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151816205 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151819777 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2151820539 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151820655 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2151820663 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151820943 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS2151820983 ALOX12B Health Risk Pathogenic/Likely pathogenic Lamellar ichthyosis, Autosomal recessive congenital ichthyosis 2
RS2151821013 ALOX12B Health Risk Pathogenic —
RS2151822325 PKD1 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2151822381 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151822408 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151822688 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS2151823018 ALOX12B Health Risk Pathogenic —
RS2151823406 PKD1 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease
RS2151823424 PKD1 Health Risk Pathogenic —
RS2151823901 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151824052 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151824152 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2151824233 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151824295 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151824362 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151825150 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151825169 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151826018 PKD1 Health Risk Likely pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2151826084 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151826161 PKD1 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2151826530 PKD1 Health Risk Likely pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2151827144 PRMT7 Health Risk Pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
RS2151828026 ALOXE3 Health Risk Pathogenic —
RS2151835119 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151835519 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151838095 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151838171 ALOXE3 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
RS2151842413 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2151842550 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2151857133 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151857318 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151858290 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2151858299 PKD1 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease
RS2151860024 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2151860332 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151860358 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151860521 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151860622 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151861729 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151861909 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151864247 SCAPER Health Risk Likely pathogenic Intellectual developmental disorder and retinitis pigmentosa, IDDRP
RS2151869895 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2151869976 CYP21A2 Health Risk Pathogenic —
RS2151870091 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151870249 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2151871966 CYP21A2 Health Risk Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS2151872060 CYP21A2 Health Risk Pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS2151873259 CYP21A2 Health Risk Pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS2151874375 CYP21A2 Health Risk Pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS2151875295 CYP21A2 Health Risk Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS2151876633 CYP21A2 Health Risk Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS2151891292 TNXB Health Risk Likely pathogenic Vesicoureteral reflux 8, Vesicoureteral reflux 8
RS2151892548 TNXB Health Risk Likely pathogenic Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS2151892569 TNXB Health Risk Likely pathogenic Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS2151892576 TNXB Health Risk Likely pathogenic Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS2151897511 TNXB Health Risk Likely pathogenic Ehlers-Danlos syndrome due to tenascin-X deficiency, TNXB-related disorder
RS2151900298 TNXB Health Risk Pathogenic Vesicoureteral reflux 8, Vesicoureteral reflux 8
RS2151900685 TNXB Health Risk Likely pathogenic Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS2151901930 CNOT1 Health Risk Likely pathogenic Vissers-Bodmer syndrome, Vissers-Bodmer syndrome
RS2151901942 CNOT1 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2151904583 CNOT1 Health Risk Likely pathogenic —
RS2151905556 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151905765 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151905927 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151905981 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS2151907055 TNXB Health Risk Pathogenic —
RS2151908362 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151908470 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151908560 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151908870 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151910789 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151911603 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151911687 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151913000 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS2151913209 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group I
RS2151913256 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2151914274 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151915093 TNXB Health Risk Likely pathogenic Vesicoureteral reflux 8, Vesicoureteral reflux 8
RS2151917567 TCF12 Health Risk Pathogenic HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA
RS2151918356 CNOT1 Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2151919221 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2151920209 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS2151920264 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151921014 TNXB Health Risk Likely pathogenic See cases, See cases
RS2151923283 TCF12 Health Risk Pathogenic —
RS2151924005 TCF12 Health Risk Pathogenic —
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