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
RS2543851938 SPG7 Health Risk Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2543852101 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2543852689 NAA60 Health Risk Pathogenic Basal ganglia calcification, idiopathic
RS2543859166 SETD1A Health Risk Likely pathogenic Neurodevelopmental disorder with speech impairment and dysmorphic facies, Neurodevelopmental disorder with speech impairment and dysmorphic facies
RS2543859245 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2543860599 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543860989 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543861101 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543861142 ACSF3 Health Risk Conflicting classifications of pathogenicity Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543861155 SETD1A Health Risk Pathogenic Inborn genetic diseases, Epilepsy
RS2543861257 ACSF3 Health Risk Pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543861570 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543862825 SETD1A Health Risk Likely pathogenic Neurodevelopmental disorder with speech impairment and dysmorphic facies, Neurodevelopmental disorder with speech impairment and dysmorphic facies
RS2543864332 SETD1A Health Risk Likely pathogenic —
RS2543866311 SETD1A Health Risk Likely pathogenic Neurodevelopmental disorder with speech impairment and dysmorphic facies, Neurodevelopmental disorder with speech impairment and dysmorphic facies
RS2543867000 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543867156 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543867318 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543869284 EZH1 Health Risk Likely pathogenic EZH1-neurodevelopmental syndrome, EZH1-neurodevelopmental syndrome
RS2543870620 WDR81 Health Risk Pathogenic —
RS2543874648 SETD1A Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
RS2543876108 SETD1A Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2543876266 SETD1A Health Risk Likely pathogenic Neurodevelopmental disorder with speech impairment and dysmorphic facies, Neurodevelopmental disorder with speech impairment and dysmorphic facies
RS2543877681 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS2543878362 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis
RS2543879829 ADAMTS18 Health Risk Likely pathogenic —
RS2543883456 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS2543885495 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS2543886485 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2543887096 INPP5K Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2543888758 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2543888962 GPHN Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2543891095 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS2543891836 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2543892190 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543892551 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2543893959 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS2543899540 CNOT1 Health Risk Likely pathogenic —
RS2543902802 KIAA0586 Health Risk Likely pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS2543903698 CDH1 Health Risk Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543904516 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2543904562 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543904567 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543904816 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543904876 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543904994 CDH1 Health Risk Pathogenic/Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543905020 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543905068 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543905141 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543905237 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543905306 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543905335 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543905475 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543905509 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS2543905568 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543905586 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543905816 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS2543905995 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543907353 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2543907543 KIAA0586 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2543908413 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2543908638 SETD1A Health Risk Likely pathogenic Neurodevelopmental disorder with speech impairment and dysmorphic facies, Neurodevelopmental disorder with speech impairment and dysmorphic facies
RS2543908886 WDR81 Health Risk Likely pathogenic WDR81-related disorder, WDR81-related disorder
RS2543909493 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543909603 SETD1A Health Risk Pathogenic Neurodevelopmental disorder with speech impairment and dysmorphic facies, Neurodevelopmental disorder with speech impairment and dysmorphic facies
RS2543911183 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2543911801 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2543912026 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543913794 CNOT1 Health Risk Likely pathogenic CNOT1-related disorder, CNOT1-related disorder
RS2543913901 CNOT1 Health Risk Likely pathogenic Vissers-Bodmer syndrome, Holoprosencephaly 12 with or without pancreatic agenesis
RS2543914405 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543914429 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543914437 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543914449 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543914479 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543914502 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543914633 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543914658 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543914667 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543914681 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543914713 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543914815 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543914878 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543914962 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543915112 CDH1 Health Risk Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543915573 CDH1 Health Risk Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543915837 CDH1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2543915964 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS2543915988 CDH1 Health Risk Pathogenic/Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS2543916081 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543916135 CDH1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2543916183 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543916227 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543916249 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543916267 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543916310 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543916472 CNOT1 Health Risk Likely pathogenic Vissers-Bodmer syndrome, Vissers-Bodmer syndrome
RS2543916694 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543916709 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS2543916866 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
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