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
RS2148574197 NBAS Health Risk Pathogenic Infantile liver failure syndrome 2, Infantile liver failure syndrome 2
RS2148574292 DYRK1A Health Risk Pathogenic Global developmental delay, Global developmental delay
RS2148574616 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2148575334 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2148577649 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS2148578668 PLEKHG5 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS2148582421 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148582438 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2148582538 DYRK1A Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2148582640 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2148582821 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148582964 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148583439 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148583736 F8 Health Risk Likely pathogenic —
RS2148583763 DMD Health Risk Pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2148583804 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148583885 NBAS Health Risk Likely pathogenic —
RS2148584710 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS2148584915 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Nonpapillary renal cell carcinoma
RS2148585199 PLEKHG5 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS2148585556 SBF1 Health Risk Pathogenic —
RS2148586064 GCKR Health Risk Conflicting classifications of pathogenicity —
RS2148587476 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2148587700 SBF1 Health Risk Likely pathogenic See cases, See cases
RS2148588620 NBAS Health Risk Pathogenic —
RS2148588662 NBAS Health Risk Pathogenic —
RS2148590668 ATRX Health Risk Pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS2148590692 SBF1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3
RS2148590809 SBF1 Health Risk Conflicting classifications of pathogenicity —
RS2148591114 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148591365 PLEKHG5 Health Risk Pathogenic Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS2148591494 ATRX Health Risk Pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS2148591514 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2148591945 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148592023 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148592682 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148593122 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2148594122 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS2148596228 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148600566 DYRK1A Health Risk Pathogenic —
RS2148601107 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2148603618 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148603634 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, DMD-related disorder
RS2148606524 BPTF Health Risk Likely pathogenic —
RS2148609284 ADGRG1 Health Risk Pathogenic —
RS2148610313 ADGRG1 Health Risk Likely pathogenic Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS2148610315 YARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases
RS2148610498 ADGRG1 Health Risk Pathogenic —
RS2148611909 ANKRD17 Health Risk Pathogenic Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
RS2148611936 TAF1 Health Risk Conflicting classifications of pathogenicity —
RS2148612226 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2148612232 TAF1 Health Risk Likely pathogenic Intellectual disability, X-linked
RS2148612254 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, Inborn genetic diseases
RS2148612654 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2148612918 DYRK1A Health Risk Pathogenic/Likely pathogenic Intellectual disability, DYRK1A-related intellectual disability syndrome
RS2148612925 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2148612955 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2148613074 DYRK1A Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2148613196 DYRK1A Health Risk Likely pathogenic Intellectual disability, DYRK1A-related intellectual disability syndrome
RS2148614924 YARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate C, Charcot-Marie-Tooth disease dominant intermediate C
RS2148614935 YARS1 Health Risk Likely pathogenic Neurologic, endocrine
RS2148615195 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148616294 DMD Health Risk Likely pathogenic —
RS2148619358 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2148619382 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2148619406 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2148619520 DYRK1A Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2148619635 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2148619667 DYRK1A Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2148622591 RPS6KA3 Health Risk Pathogenic Coffin-Lowry syndrome, Intellectual disability
RS2148623651 ATRX Health Risk Likely pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS2148625435 ATRX Health Risk Likely pathogenic —
RS2148627334 PLEKHG5 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS2148627581 DYRK1A Health Risk Pathogenic —
RS2148627691 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2148627802 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2148630194 DMD Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dystrophin, Duchenne muscular dystrophy
RS2148630350 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148630419 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148630465 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148631382 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148631503 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148631657 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2148632136 DMD Health Risk Pathogenic —
RS2148632453 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148632518 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148633437 DEPDC5 Health Risk Likely pathogenic Epilepsy, familial focal
RS2148633882 MAPK1 Health Risk Likely pathogenic Noonan syndrome 13, Noonan syndrome 13
RS2148636494 NBAS Health Risk Likely pathogenic Infantile liver failure syndrome 2, Infantile liver failure syndrome 2
RS2148636532 NBAS Health Risk Likely pathogenic Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS2148637532 ATRX Health Risk Pathogenic Intellectual disability-hypotonic facies syndrome, X-linked
RS2148638603 ATRX Health Risk Likely pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome
RS2148640122 ATRX Health Risk Likely pathogenic —
RS2148643497 RPS6KA3 Health Risk Pathogenic Intellectual disability, X-linked 19
RS2148643592 RPS6KA3 Health Risk Conflicting classifications of pathogenicity Coffin-Lowry syndrome, Intellectual disability
RS2148644309 LPIN1 Health Risk Likely pathogenic See cases, See cases
RS2148649404 DYRK1A Health Risk Likely pathogenic —
RS2148649530 DYRK1A Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2148649693 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2148649751 DEPDC5 Health Risk Likely pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
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