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
RS2128357301 ARID1B Health Risk Pathogenic —
RS2128366313 ARID1B Health Risk Pathogenic —
RS2128366431 ARID1B Health Risk Pathogenic ARID1B-related BAFopathy, ARID1B-related BAFopathy
RS2128366503 ARID1B Health Risk Pathogenic Adrenal cortex carcinoma, Adrenal cortex carcinoma
RS2128366725 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2128366768 ARID1B Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2128372410 ARID1B Health Risk Pathogenic ARID1B-related BAFopathy, ARID1B-related BAFopathy
RS2128372743 ARID1B Health Risk Pathogenic —
RS2128372755 ARID1B Health Risk Pathogenic ARID1B-related BAFopathy, ARID1B-related BAFopathy
RS2128372930 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome, Coffin-Siris syndrome
RS2128373069 ARID1B Health Risk Pathogenic/Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2128374043 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2128374357 TRAF3IP2 Health Risk Pathogenic Candidiasis, familial
RS2128374526 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2128374644 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2128374840 FBXL4 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS2128374874 FBXL4 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS2128375131 ARID1B Health Risk Pathogenic/Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2128375200 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2128375513 FBXL4 Health Risk Likely pathogenic —
RS2128375658 FBXL4 Health Risk Likely pathogenic Leigh syndrome, Leigh syndrome
RS2128375760 ARID1B Health Risk Pathogenic —
RS2128377544 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Acute myeloid leukemia
RS2128378917 FBXL4 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS2128383634 BRAT1 Health Risk Likely pathogenic —
RS2128384059 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS2128384174 BRAT1 Health Risk Likely pathogenic —
RS2128384496 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2128384779 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2128385309 ARID1B Health Risk Pathogenic ARID1B-related BAFopathy, ARID1B-related BAFopathy
RS2128385522 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2128386131 BRAT1 Health Risk Pathogenic Seizure, Seizure
RS2128386656 FIG4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2128387076 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2128390167 BRAT1 Health Risk Likely pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS2128391037 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2128391058 ARID1B Health Risk Pathogenic —
RS2128391439 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2128391447 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2128391901 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2128392205 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2128392250 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2128392335 ARID1B Health Risk Pathogenic ARID1B-related BAFopathy, ARID1B-related BAFopathy
RS2128392620 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2128393384 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS2128393408 ARID1B Health Risk Pathogenic Coffin-Siris syndrome, Neurodevelopmental delay
RS2128393700 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2128394491 ARID1B Health Risk Pathogenic ARID1B-related BAFopathy, ARID1B-related BAFopathy
RS2128394568 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2128394615 ARID1B Health Risk Pathogenic ARID1B-related BAFopathy, ARID1B-related BAFopathy
RS2128394676 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2128395588 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS2128395673 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2128395778 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2128396622 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Inborn genetic diseases
RS2128396828 ARID1B Health Risk Pathogenic ARID1B-related BAFopathy, ARID1B-related BAFopathy
RS2128396856 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2128397101 ARID1B Health Risk Likely pathogenic —
RS2128397285 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2128397334 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2128397593 ARID1B Health Risk Pathogenic ARID1B-related BAFopathy, ARID1B-related BAFopathy
RS2128398237 ARID1B Health Risk Likely pathogenic —
RS2128398457 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2128398514 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS2128398868 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2128399165 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2128399475 BRAT1 Health Risk Likely pathogenic Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
RS2128400842 FBXL4 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS2128405537 FBXL4 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS2128409409 SERAC1 Health Risk Pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS2128410576 SERAC1 Health Risk Likely pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS2128422954 CRPPA Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS2128425459 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS2128432163 GTF2H5 Health Risk Pathogenic —
RS2128443515 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2128447056 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS2128448988 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS2128452309 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS2128453160 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2128459908 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2128460058 KLHL7 Health Risk Likely pathogenic PERCHING syndrome, PERCHING syndrome
RS2128460324 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS2128460328 KLHL7 Health Risk Pathogenic —
RS2128462015 ARID1B Health Risk Pathogenic/Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2128463445 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2128463505 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2128464395 KLHL7 Health Risk Likely pathogenic —
RS2128464407 KLHL7 Health Risk Pathogenic —
RS2128465037 KLHL7 Health Risk Pathogenic —
RS2128465955 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS2128466903 KLHL7 Health Risk Likely pathogenic PERCHING syndrome, PERCHING syndrome
RS2128469474 KLHL7 Health Risk Likely pathogenic PERCHING syndrome, PERCHING syndrome
RS2128469724 KLHL7 Health Risk Pathogenic Retinitis pigmentosa 42, Retinitis pigmentosa 42
RS2128469727 KLHL7 Health Risk Pathogenic Retinitis pigmentosa 42, Retinitis pigmentosa 42
RS2128471633 GRIK2 Health Risk Likely pathogenic —
RS2128471643 GRIK2 Health Risk Likely pathogenic Autistic behavior, Autistic behavior
RS2128473916 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2128474023 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2128474056 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2128479064 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
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