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
RS2516409196 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516410133 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516418427 KCNQ2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 7
RS2516418447 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS2516418487 KCNQ2 Health Risk Pathogenic/Likely pathogenic KCNQ2-related disorder, Early-infantile DEE
RS2516418712 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2516419336 KCNQ2 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Early-infantile DEE
RS2516419508 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2516419848 KCNQ2 Health Risk Conflicting classifications of pathogenicity KCNQ2-related disorder, Early-infantile DEE
RS2516420288 KCNQ2 Health Risk Pathogenic Complex neurodevelopmental disorder, Early-infantile DEE
RS2516420994 KCNQ2 Health Risk Likely pathogenic Complex neurodevelopmental disorder, Early-infantile DEE
RS2516421132 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS2516421256 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2516446102 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2516447000 KCNQ2 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS2516447288 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516447397 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516447591 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS2516447652 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516447970 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516501169 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2516501540 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2516501836 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS2516502005 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516502104 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516502329 KCNQ2 Health Risk Pathogenic —
RS2516502770 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2516502806 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS2516503480 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516504404 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516504625 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516504736 KCNQ2 Health Risk Conflicting classifications of pathogenicity Neonatal encephalopathy, Early-infantile DEE
RS2516505136 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2516510450 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2516511380 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2516511491 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516511525 KCNQ2 Health Risk Likely pathogenic —
RS2516512439 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516512792 KCNQ2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2516532723 KCNQ2 Health Risk Likely pathogenic —
RS2516533290 KCNQ2 Health Risk Pathogenic KCNQ2-related disorder, KCNQ2-related disorder
RS2516534141 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516534189 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516534539 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516540108 CHRNA4 Health Risk Likely pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 1, Autosomal dominant nocturnal frontal lobe epilepsy 1
RS2516551572 TMPRSS15 Health Risk Pathogenic —
RS2516580191 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS2516611123 TMPRSS15 Health Risk Pathogenic —
RS2516620514 TMPRSS15 Health Risk Pathogenic —
RS2516660280 SOD1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS2516670592 TMPRSS15 Health Risk Pathogenic —
RS2516671447 LAMA5 Health Risk Pathogenic Nephrotic syndrome, IIa 26
RS2516688932 RALGAPB Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2516694144 SYNJ1 Health Risk Pathogenic Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy
RS2516694284 TMPRSS15 Health Risk Pathogenic —
RS2516717906 SYNJ1 Health Risk Pathogenic Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy
RS2516718524 IFNAR2 Health Risk Pathogenic —
RS2516724533 SCAF4 Health Risk Likely pathogenic Fliedner-Zweier syndrome, Fliedner-Zweier syndrome
RS2516742602 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2516742945 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516743033 KCNQ2 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS2516743177 KCNQ2 Health Risk Likely pathogenic Seizure, Seizure
RS2516743666 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS2516743879 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516744396 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS2516745503 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516746009 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516747811 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516753687 SCAF4 Health Risk Pathogenic Fliedner-Zweier syndrome, Fliedner-Zweier syndrome
RS2516753785 SCAF4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2516760115 SYNJ1 Health Risk Pathogenic Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy
RS2516760777 SCAF4 Health Risk Pathogenic/Likely pathogenic Fliedner-Zweier syndrome, Fliedner-Zweier syndrome
RS2516760898 SCAF4 Health Risk Likely pathogenic Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
RS2516765465 SCAF4 Health Risk Pathogenic Abnormality of the kidney, Multicystic kidney dysplasia
RS2516765924 ZNFX1 Health Risk Likely pathogenic ZNFX1-related disorder, ZNFX1-related disorder
RS2516768659 SCAF4 Health Risk Pathogenic —
RS2516772394 NEDD4L Health Risk Likely pathogenic Periventricular nodular heterotopia 7, Periventricular nodular heterotopia 7
RS2516773213 EEF1A2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 33
RS2516773458 EEF1A2 Health Risk Likely pathogenic —
RS2516774500 SCAF4 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2516776217 IL10RB Health Risk Likely pathogenic Inflammatory bowel disease 25, Inflammatory bowel disease 25
RS2516777715 SCAF4 Health Risk Likely pathogenic SCAF4-related disorder, SCAF4-related disorder
RS2516779125 SCAF4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2516779304 SCAF4 Health Risk Likely pathogenic SCAF4-related disorder, SCAF4-related disorder
RS2516781162 ZNFX1 Health Risk Pathogenic —
RS2516783448 EEF1A2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 33
RS2516783504 EEF1A2 Health Risk Likely pathogenic —
RS2516785650 TMPRSS15 Health Risk Pathogenic —
RS2516785904 TMPRSS15 Health Risk Pathogenic —
RS2516786188 TMPRSS15 Health Risk Pathogenic —
RS2516786992 EEF1A2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 33
RS2516790668 IL10RB Health Risk Pathogenic Inflammatory bowel disease 25, Inflammatory bowel disease 25
RS2516794697 GNAS Health Risk Pathogenic/Likely pathogenic Albright hereditary osteodystrophy, pseudohypoparathyroidism
RS2516794817 GNAS Health Risk Pathogenic —
RS2516795334 GNAS Health Risk Pathogenic —
RS2516798313 GNAS Health Risk Pathogenic GNAS-related disorder, GNAS-related disorder
RS2516801467 GNAS Health Risk Likely pathogenic GNAS-related disorder, GNAS-related disorder
RS2516804323 TMPRSS15 Health Risk Likely pathogenic —
RS2516811028 SCAF4 Health Risk Likely pathogenic Fliedner-Zweier syndrome, Fliedner-Zweier syndrome
RS2516811789 SCAF4 Health Risk Likely pathogenic Fliedner-Zweier syndrome, Fliedner-Zweier syndrome
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