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
RS2127643852 FARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS2127643855 FARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS2127651823 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2127653183 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2127663896 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2127664245 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2127664665 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2127665867 LCA5 Health Risk Pathogenic —
RS2127665958 LCA5 Health Risk Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS2127665995 LCA5 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS2127666004 LCA5 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS2127666049 LCA5 Health Risk Pathogenic —
RS2127666072 LCA5 Health Risk Pathogenic —
RS2127666093 LCA5 Health Risk Pathogenic —
RS2127667021 LCA5 Health Risk Pathogenic —
RS2127667058 LCA5 Health Risk Pathogenic —
RS2127667162 LCA5 Health Risk Likely pathogenic —
RS2127669254 LCA5 Health Risk Pathogenic —
RS2127679847 LCA5 Health Risk Pathogenic —
RS2127679884 LCA5 Health Risk Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS2127680021 LCA5 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS2127680039 LCA5 Health Risk Pathogenic —
RS2127680192 LCA5 Health Risk Pathogenic —
RS2127680222 LCA5 Health Risk Pathogenic —
RS2127680289 LCA5 Health Risk Pathogenic —
RS2127682146 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2127682999 LCA5 Health Risk Pathogenic —
RS2127683029 LCA5 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS2127683593 PHIP Health Risk Pathogenic Schizophrenia, Schizophrenia
RS2127686639 POLR1C Health Risk Pathogenic Treacher Collins syndrome 3, Treacher Collins syndrome 3
RS2127689099 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Hereditary sensory and autonomic neuropathy type 6
RS2127690980 PHIP Health Risk Pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2127691140 POLR1C Health Risk Likely pathogenic Hypomyelinating leukodystrophy 11, Treacher Collins syndrome 3
RS2127691868 PHIP Health Risk Pathogenic See cases, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2127698054 ELOVL4 Health Risk Likely pathogenic Spastic ataxia, Spastic ataxia
RS2127698493 ELOVL4 Health Risk Conflicting classifications of pathogenicity —
RS2127698518 ELOVL4 Health Risk Pathogenic —
RS2127698531 ELOVL4 Health Risk Pathogenic —
RS2127698713 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1B
RS2127698743 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2127698980 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2127701393 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2127703554 ELOVL4 Health Risk Likely pathogenic —
RS2127705231 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2127714980 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2127718540 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2127718655 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2127718679 FARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS2127721830 PHIP Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2127726114 BCKDHB Health Risk Conflicting classifications of pathogenicity —
RS2127726128 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2127726212 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2127727907 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2127727924 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2127735189 JARID2 Health Risk Pathogenic Mild intellectual disability, Mild intellectual disability
RS2127740492 PHIP Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2127740526 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2127740900 PHIP Health Risk Likely pathogenic —
RS2127741566 PHIP Health Risk Pathogenic/Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related disorder
RS2127741611 PHIP Health Risk Likely pathogenic See cases, See cases
RS2127743491 JARID2 Health Risk Pathogenic —
RS2127748476 PHIP Health Risk Pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2127749078 TUBB Health Risk Likely pathogenic Multiple benign circumferential skin creases on limbs 1, Complex cortical dysplasia with other brain malformations 6
RS2127749124 TUBB Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 6, Complex cortical dysplasia with other brain malformations 6
RS2127749712 TUBB Health Risk Likely pathogenic —
RS2127749740 TUBB Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 6, Complex cortical dysplasia with other brain malformations 6
RS2127749786 TUBB Health Risk Conflicting classifications of pathogenicity Abnormal brain morphology, Inborn genetic diseases
RS2127749978 TUBB Health Risk Likely pathogenic Ventriculomegaly, Hypoplasia of the corpus callosum
RS2127756207 JARID2 Health Risk Likely pathogenic Neurodevelopmental disorder, Developmental delay with variable intellectual disability and dysmorphic facies
RS2127756209 JARID2 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2127760440 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2127767937 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2127767975 FARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS2127768101 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS2127768716 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2127768828 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2127769312 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS2127773120 POLH Health Risk Pathogenic Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
RS2127773185 POLH Health Risk Pathogenic Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
RS2127775550 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2127779345 BCKDHB Health Risk Likely pathogenic —
RS2127781697 FLT4 Health Risk Likely pathogenic —
RS2127784434 DTNBP1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 7, Hermansky-Pudlak syndrome 7
RS2127785060 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2127787560 FLT4 Health Risk Likely pathogenic FLT4-related disorder, FLT4-related disorder
RS2127802292 FLT4 Health Risk Likely pathogenic —
RS2127821940 POLH Health Risk Likely pathogenic Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
RS2127830414 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Hereditary sensory and autonomic neuropathy type 6
RS2127838700 GTPBP2 Health Risk Likely pathogenic Jaberi-Elahi syndrome, Jaberi-Elahi syndrome
RS2127839096 FLT4 Health Risk Pathogenic Congenital heart defects, multiple types
RS2127840239 GTPBP2 Health Risk Pathogenic Jaberi-Elahi syndrome, Jaberi-Elahi syndrome
RS2127840543 ZNF292 Health Risk Likely pathogenic —
RS2127859550 ZNF292 Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2127859619 ZNF292 Health Risk Likely pathogenic —
RS2127862686 ZNF292 Health Risk Likely pathogenic Motor delay, Intellectual developmental disorder
RS2127862824 ZNF292 Health Risk Likely pathogenic —
RS2127863644 ZNF292 Health Risk Pathogenic —
RS2127864363 ZNF292 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal dominant 64
RS2127867376 ZNF292 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2127867444 ZNF292 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal dominant 64
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