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
RS2488744934 VLDLR Health Risk Pathogenic —
RS2488748772 VLDLR Health Risk Likely pathogenic —
RS2488758091 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS2488758171 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2488758180 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS2488760578 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2488762498 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2488762701 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2488765851 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2488786625 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2488787902 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS2488803969 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2488834482 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2488845552 RRM2B Health Risk Likely pathogenic —
RS2488857097 JAK2 Health Risk Likely pathogenic See cases, Hepatocellular carcinoma
RS2488859555 RRM2B Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 8a, Mitochondrial DNA depletion syndrome 8a
RS2488859617 RRM2B Health Risk Pathogenic —
RS2488859672 RRM2B Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 8a, Mitochondrial DNA depletion syndrome 8a
RS2488862395 RRM2B Health Risk Likely pathogenic —
RS2488868734 RRM2B Health Risk Likely pathogenic —
RS2488868897 RRM2B Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 8a, Mitochondrial DNA depletion syndrome 8a
RS2488871242 CSPP1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 21, Joubert syndrome 21
RS2488877268 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2488877336 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2488877462 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2488877642 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2488909361 GPIHBP1 Health Risk Likely pathogenic Hyperlipoproteinemia, type 1D
RS2488948192 DGAT1 Health Risk Pathogenic Congenital diarrhea 7 with exudative enteropathy, Congenital diarrhea 7 with exudative enteropathy
RS2488948345 DGAT1 Health Risk Likely pathogenic —
RS2488948759 DGAT1 Health Risk Pathogenic —
RS2488948958 DGAT1 Health Risk Pathogenic/Likely pathogenic —
RS2488949493 DGAT1 Health Risk Pathogenic —
RS2488949615 DGAT1 Health Risk Likely pathogenic Congenital diarrhea 7 with exudative enteropathy, Congenital diarrhea 7 with exudative enteropathy
RS2488951174 DGAT1 Health Risk Pathogenic —
RS2488951760 DGAT1 Health Risk Likely pathogenic —
RS2488952421 DGAT1 Health Risk Pathogenic —
RS2488952501 DGAT1 Health Risk Pathogenic —
RS2488952512 DGAT1 Health Risk Pathogenic —
RS2488953064 DGAT1 Health Risk Pathogenic —
RS2488954896 DGAT1 Health Risk Likely pathogenic —
RS2488955455 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2488957018 DGAT1 Health Risk Pathogenic —
RS2488957738 DGAT1 Health Risk Likely pathogenic —
RS2488964683 TEK Health Risk Likely pathogenic —
RS2488972713 DGAT1 Health Risk Likely pathogenic Congenital diarrhea 7 with exudative enteropathy, Congenital diarrhea 7 with exudative enteropathy
RS2488972726 DGAT1 Health Risk Pathogenic —
RS2488972740 DGAT1 Health Risk Pathogenic —
RS2488972766 DGAT1 Health Risk Pathogenic —
RS2488989309 TEK Health Risk Likely pathogenic Multiple cutaneous and mucosal venous malformations, Multiple cutaneous and mucosal venous malformations
RS2489001347 TEK Health Risk Likely pathogenic Glaucoma 3, primary congenital
RS2489006048 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489006052 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489006115 GLDC Health Risk Likely pathogenic —
RS2489008925 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489010435 TEK Health Risk Likely pathogenic Glaucoma 3, primary congenital
RS2489011352 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489011374 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489011454 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489011541 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489011561 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489015973 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489016003 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489031850 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489033590 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489033624 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489033738 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489033769 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489035158 SLC52A2 Health Risk Pathogenic Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
RS2489035762 TEK Health Risk Likely pathogenic Multiple cutaneous and mucosal venous malformations, Multiple cutaneous and mucosal venous malformations
RS2489035766 TEK Health Risk Pathogenic Multiple cutaneous and mucosal venous malformations, Vascular malformation
RS2489036171 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS2489036296 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489036333 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489036370 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489039522 SLC52A2 Health Risk Pathogenic Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
RS2489039784 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489039902 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489042181 SLC52A2 Health Risk Pathogenic Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
RS2489047024 SLC52A2 Health Risk Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
RS2489048081 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489055874 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2489070185 RFX3 Health Risk Pathogenic RFX3-associated neurodevelopmental disorder, RFX3-associated neurodevelopmental disorder
RS2489076677 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489076714 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489076726 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489076733 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489076947 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS2489078910 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489079018 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489079135 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489080171 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489080277 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489084081 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489084120 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS2489084155 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy 1
RS2489085220 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489085288 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489085309 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489098033 GLDC Health Risk Likely pathogenic Glycine encephalopathy 1, Glycine encephalopathy 1
RS2489098058 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
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