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
RS2151299623 SRCAP Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2151299633 SRCAP Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2151300039 SRCAP Health Risk Pathogenic Floating-Harbor syndrome, Floating-Harbor syndrome
RS2151300055 SRCAP Health Risk Pathogenic —
RS2151300137 SRCAP Health Risk Pathogenic Floating-Harbor syndrome, Floating-Harbor syndrome
RS2151300144 SRCAP Health Risk Pathogenic —
RS2151300418 SRCAP Health Risk Pathogenic Floating-Harbor syndrome, Developmental delay
RS2151301004 SRCAP Health Risk Likely pathogenic —
RS2151301216 SRCAP Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2151301366 SRCAP Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Developmental delay
RS2151303613 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151304304 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2151304648 FANCI Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2151305375 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2151305935 CREBBP Health Risk Pathogenic —
RS2151306395 TSC2 Health Risk Pathogenic —
RS2151306514 CREBBP Health Risk Pathogenic Menke-Hennekam syndrome 1, Menke-Hennekam syndrome 1
RS2151306905 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1
RS2151307419 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2151308298 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2151308835 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2151309006 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2151309318 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome
RS2151309510 CREBBP Health Risk Likely pathogenic Menke-Hennekam syndrome 1, Menke-Hennekam syndrome 1
RS2151309803 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2151310104 PHKG2 Health Risk Pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS2151310413 PHKG2 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS2151311363 CREBBP Health Risk Likely pathogenic See cases, See cases
RS2151311520 CREBBP Health Risk Likely pathogenic Tip-toe gait, Tip-toe gait
RS2151311712 CREBBP Health Risk Pathogenic —
RS2151311733 CREBBP Health Risk Likely pathogenic —
RS2151311901 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2151312423 CREBBP Health Risk Likely pathogenic Rare genetic intellectual disability, Rare genetic intellectual disability
RS2151315345 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151316174 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151316542 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2151317319 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2151317483 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2151317705 TSC2 Health Risk Pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2151317974 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2151318037 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151318201 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2151318273 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2151318564 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2151318827 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151319848 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS2151319998 LCAT Health Risk Pathogenic/Likely pathogenic Fish-eye disease, Norum disease
RS2151325186 RPGRIP1L Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2151325681 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2151325787 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2151325875 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS2151327153 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151327314 ADAD2 Health Risk Pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS2151327516 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151327706 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2151327825 CREBBP Health Risk Pathogenic —
RS2151327865 CREBBP Health Risk Pathogenic —
RS2151327974 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2151327978 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2151328709 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151329629 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2151329858 CREBBP Health Risk Likely pathogenic —
RS2151330140 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2151330226 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2151334254 CREBBP Health Risk Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2151336580 CREBBP Health Risk Likely pathogenic —
RS2151336596 CREBBP Health Risk Pathogenic Malignant lymphoma, large B-cell
RS2151341377 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2151341681 DPH1 Health Risk Pathogenic Developmental delay with short stature, dysmorphic facial features
RS2151346636 TSC2 Health Risk Pathogenic —
RS2151346853 DPH1 Health Risk Likely pathogenic Developmental delay with short stature, dysmorphic facial features
RS2151347730 DPH1 Health Risk Likely pathogenic Developmental delay with short stature, dysmorphic facial features
RS2151347763 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151349354 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151351169 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2151351558 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151352275 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2151352359 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2151352672 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2151353536 UNC45A Health Risk Conflicting classifications of pathogenicity Osteootohepatoenteric syndrome, Osteootohepatoenteric syndrome
RS2151353922 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2151354104 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2151356150 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
RS2151356741 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Isolated focal cortical dysplasia type II
RS2151356819 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151375529 KDM6B Health Risk Likely pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS2151376850 KDM6B Health Risk Pathogenic See cases, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS2151378140 KDM6B Health Risk Pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS2151378447 KDM6B Health Risk Likely pathogenic —
RS2151379290 KDM6B Health Risk Likely pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS2151379380 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2151379742 KDM6B Health Risk Pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS2151379880 KDM6B Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS2151380036 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151380462 KDM6B Health Risk Likely pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS2151380836 TSC2 Health Risk Pathogenic TSC2-related disorder, TSC2-related disorder
RS2151381815 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2151382514 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151383341 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2151383792 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
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