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
RS2473808886 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473809341 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2473810012 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473810026 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473810084 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473810642 SETD5 Health Risk Pathogenic —
RS2473811333 FOXL2 Health Risk Likely pathogenic —
RS2473811785 FOXL2 Health Risk Likely pathogenic Blepharophimosis, ptosis
RS2473811864 FOXL2 Health Risk Pathogenic —
RS2473811980 FOXL2 Health Risk Pathogenic —
RS2473812089 FOXL2 Health Risk Pathogenic —
RS2473812150 FOXL2 Health Risk Pathogenic —
RS2473812186 FOXL2 Health Risk Likely pathogenic Blepharophimosis, ptosis
RS2473812496 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS2473812512 FOXL2 Health Risk Pathogenic —
RS2473812516 FOXL2 Health Risk Pathogenic —
RS2473812779 FOXL2 Health Risk Pathogenic —
RS2473813226 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473813365 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473813482 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473813654 FOXL2 Health Risk Pathogenic —
RS2473814390 FOXL2 Health Risk Pathogenic —
RS2473814484 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473814492 FOXL2 Health Risk Pathogenic —
RS2473814498 FOXL2 Health Risk Likely pathogenic —
RS2473814576 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473814628 FOXL2 Health Risk Pathogenic —
RS2473814801 FOXL2 Health Risk Likely pathogenic Blepharophimosis, ptosis
RS2473814910 FOXL2 Health Risk Likely pathogenic —
RS2473814963 FOXL2 Health Risk Pathogenic —
RS2473815051 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS2473815062 FOXL2 Health Risk Likely pathogenic Blepharophimosis, ptosis
RS2473815119 FOXL2 Health Risk Pathogenic —
RS2473815258 FOXL2 Health Risk Pathogenic —
RS2473817538 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473817613 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473819666 P3H2 Health Risk Likely pathogenic —
RS2473823658 CCDC39 Health Risk Likely pathogenic Primary ciliary dyskinesia 14, Primary ciliary dyskinesia 14
RS2473824051 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473824830 CCDC39 Health Risk Likely pathogenic Primary ciliary dyskinesia 14, Primary ciliary dyskinesia
RS2473824869 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473825959 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2473826155 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473826249 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473826256 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473828662 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473828687 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473828784 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473830105 CACNA1D Health Risk Conflicting classifications of pathogenicity Aldosterone-producing adenoma with seizures and neurological abnormalities, Aldosterone-producing adenoma with seizures and neurological abnormalities
RS2473845881 CCDC39 Health Risk Likely pathogenic Primary ciliary dyskinesia 14, Primary ciliary dyskinesia 14
RS2473846363 ALG3 Health Risk Pathogenic ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS2473852727 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2473859485 ALG3 Health Risk Pathogenic ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS2473863644 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2473864066 COL4A4 Health Risk Likely pathogenic —
RS2473864723 COL4A4 Health Risk Likely pathogenic COL4A4-related disorder, Autosomal recessive Alport syndrome
RS2473865757 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2473875619 KNG1 Health Risk Pathogenic High molecular weight kininogen deficiency, High molecular weight kininogen deficiency
RS2473882353 SLC2A2 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS2473887956 PIK3CA Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation 1
RS2473889192 SETD5 Health Risk Likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2473889214 SETD5 Health Risk Likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2473889992 FGF12 Health Risk Likely pathogenic —
RS2473891225 SETD5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2473895350 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2473897094 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2473898987 SETD5 Health Risk Likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2473903903 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2473906350 SLC2A2 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS2473906384 SLC2A2 Health Risk Likely pathogenic Fanconi-Bickel syndrome, Type 2 diabetes mellitus
RS2473916930 SLC2A2 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS2473919563 PLD1 Health Risk Pathogenic —
RS2473923727 SLC2A2 Health Risk Likely pathogenic SLC2A2-related disorder, SLC2A2-related disorder
RS2473924536 DNAJC19 Health Risk Likely pathogenic 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5
RS2473926499 CACNA1D Health Risk Conflicting classifications of pathogenicity —
RS2473927704 DNAJC19 Health Risk Likely pathogenic 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5
RS2473930512 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2473931479 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2473932137 SETD5 Health Risk Pathogenic —
RS2473932505 SETD5 Health Risk Pathogenic —
RS2473933595 DNAJC19 Health Risk Pathogenic 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5
RS2473935158 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS2473935333 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS2473935676 SLC2A2 Health Risk Likely pathogenic SLC2A2-related disorder, SLC2A2-related disorder
RS2473937795 GFM1 Health Risk Likely pathogenic —
RS2473938090 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS2473938187 GFM1 Health Risk Pathogenic —
RS2473938268 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS2473938700 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS2473938735 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS2473938802 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS2473939208 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2473939660 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2473939910 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Hematuria
RS2473940833 GFM1 Health Risk Likely pathogenic —
RS2473940889 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS2473941549 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS2473948725 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS2473948919 GFM1 Health Risk Pathogenic —
RS2473949063 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
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