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
RS1553137699 PCSK9 Health Risk Pathogenic Hypercholesterolemia, familial
RS1553138299 SZT2 Health Risk Pathogenic Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes
RS1553138869 SZT2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 18
RS1553141017 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, axonal
RS1553141680 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1553141686 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1553141706 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS1553141707 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS1553142428 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS1553142436 MFN2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2
RS1553143142 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1553143165 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1553143741 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1553143791 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1553143852 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS1553143890 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1553144066 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS1553144086 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS1553145402 MFN2 Health Risk Likely pathogenic Hereditary motor and sensory neuropathy with optic atrophy, Hereditary motor and sensory neuropathy with optic atrophy
RS1553145409 MFN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1553145891 ARID1A Health Risk Conflicting classifications of pathogenicity —
RS1553146165 ARID1A Health Risk Pathogenic Intellectual disability, autosomal dominant 14
RS1553146551 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1553146559 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS1553146806 PINK1;PINK1-AS Health Risk Likely pathogenic —
RS1553148514 NFIA Health Risk Conflicting classifications of pathogenicity NFIA-related disorder, Inborn genetic diseases
RS1553149167 NFIA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Brain malformations with or without urinary tract defects
RS1553149182 NFIA Health Risk Pathogenic NFIA-related disorder, Brain malformations with or without urinary tract defects
RS1553149185 NFIA Health Risk Pathogenic Brain malformations with or without urinary tract defects, Inborn genetic diseases
RS1553149202 NFIA Health Risk Likely pathogenic Chromosome 1p32-p31 deletion syndrome, Chromosome 1p32-p31 deletion syndrome
RS1553149206 NFIA Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553149467 ARID1A Health Risk association Colorectal cancer, Colorectal cancer
RS1553150995 AK2 Health Risk Pathogenic Reticular dysgenesis, Reticular dysgenesis
RS1553151177 AK2 Health Risk Pathogenic Reticular dysgenesis, Reticular dysgenesis
RS1553151208 B3GALT6 Health Risk Likely pathogenic —
RS1553151294 B3GALT6 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia with joint laxity, type 1
RS1553152590 ARID1A Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 14
RS1553152989 RPE65 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis 2
RS1553153130 ARID1A Health Risk Pathogenic —
RS1553153135 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS1553153243 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Leber congenital amaurosis 2
RS1553153291 ARID1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 14
RS1553153365 HNRNPR Health Risk Likely pathogenic Inborn genetic diseases, Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
RS1553153399 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1553153597 RPE65 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS1553153669 RERE Health Risk Likely pathogenic —
RS1553153770 ARID1A Health Risk Likely pathogenic —
RS1553153771 ARID1A Health Risk Likely pathogenic Coffin-Siris syndrome, Coffin-Siris syndrome
RS1553153783 ARID1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 14
RS1553154062 AGO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental abnormality
RS1553154069 AGO1 Health Risk Likely pathogenic Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
RS1553154130 RERE Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with or without anomalies of the brain, eye
RS1553154132 RERE Health Risk Pathogenic Inborn genetic diseases, Neurodevelopmental disorder with or without anomalies of the brain
RS1553155565 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1553155581 RERE Health Risk Likely pathogenic —
RS1553155778 RERE Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553155823 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1553155843 SLC2A1 Health Risk Likely pathogenic —
RS1553155880 SLC2A1 Health Risk Likely pathogenic —
RS1553155885 SLC2A1 Health Risk Pathogenic —
RS1553155887 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1553155891 SLC2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1553155900 SLC2A1 Health Risk Pathogenic —
RS1553155973 SLC2A1 Health Risk Pathogenic Encephalopathy due to GLUT1 deficiency, Encephalopathy due to GLUT1 deficiency
RS1553155982 SLC2A1 Health Risk Pathogenic Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes
RS1553155986 SLC2A1 Health Risk Pathogenic/Likely pathogenic Encephalopathy due to GLUT1 deficiency, GLUT1 deficiency syndrome 1
RS1553156002 SLC2A1 Health Risk Pathogenic —
RS1553156047 SLC2A1 Health Risk Pathogenic Childhood onset GLUT1 deficiency syndrome 2, Childhood onset GLUT1 deficiency syndrome 2
RS1553156051 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1553156053 SLC2A1 Health Risk Pathogenic Inborn genetic diseases, GLUT1 deficiency syndrome 1
RS1553156069 SLC2A1 Health Risk Pathogenic Encephalopathy due to GLUT1 deficiency, Encephalopathy due to GLUT1 deficiency
RS1553156086 SLC2A1 Health Risk Pathogenic Inborn genetic diseases, Epilepsy
RS1553156106 RHCE Health Risk Pathogenic RH-NULL, AMORPH TYPE
RS1553156146 SLC2A1 Health Risk Pathogenic —
RS1553156154 SLC2A1 Health Risk Likely pathogenic —
RS1553156161 SLC2A1 Health Risk Likely pathogenic —
RS1553156199 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1553156203 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS1553156882 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1553156884 ALG6 Health Risk Pathogenic/Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1553156894 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1553157428 ALG6 Health Risk Pathogenic/Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1553157912 AHDC1 Health Risk Pathogenic —
RS1553157935 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome, Encephalopathy due to GLUT1 deficiency
RS1553158393 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS1553158517 AHDC1 Health Risk Likely pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS1553158679 AHDC1 Health Risk Pathogenic —
RS1553158807 AHDC1 Health Risk Pathogenic —
RS1553158947 AHDC1 Health Risk Likely pathogenic —
RS1553158952 AHDC1 Health Risk Pathogenic —
RS1553159009 AHDC1 Health Risk Pathogenic —
RS1553159175 AHDC1 Health Risk Pathogenic —
RS1553159284 AHDC1 Health Risk Pathogenic —
RS1553159383 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS1553159575 AHDC1 Health Risk Likely pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS1553159581 AHDC1 Health Risk Likely pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS1553159719 TARDBP Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS
RS1553159739 TARDBP Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 10, Amyotrophic lateral sclerosis type 10
RS1553159753 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS1553159764 AHDC1 Health Risk Likely pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
« Prev 1 ... 756 757 758 759 760 761 762 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →