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
RS2145903433 COMP Health Risk Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS2145903436 COMP Health Risk Conflicting classifications of pathogenicity Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS2145906974 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2145906988 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2145907069 MAST1 Health Risk Pathogenic Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
RS2145907078 MAST1 Health Risk Likely pathogenic Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
RS2145907149 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2145909826 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2145910066 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2145910106 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2145910195 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2145910302 DONSON Health Risk Pathogenic/Likely pathogenic Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1
RS2145910842 ARHGEF18 Health Risk Pathogenic —
RS2145912242 ARHGEF18 Health Risk Pathogenic —
RS2145912754 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2145912840 RYR1 Health Risk Likely pathogenic RYR1-related myopathy, RYR1-related myopathy
RS2145913747 RYR1 Health Risk Likely pathogenic Malignant hyperthermia of anesthesia, Malignant hyperthermia of anesthesia
RS2145914268 GNAS Health Risk Pathogenic Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2145914732 GNAS Health Risk Pathogenic —
RS2145916486 GNAS Health Risk Pathogenic Pseudohypoparathyroidism, Pseudopseudohypoparathyroidism
RS2145916749 GNAS Health Risk Pathogenic Pseudopseudohypoparathyroidism, Pseudohypoparathyroidism
RS2145916852 GNAS Health Risk Likely pathogenic Pseudohypoparathyroidism type 1C, Pseudohypoparathyroidism type I A
RS2145916888 GNAS Health Risk Pathogenic Pseudohypoparathyroidism type I A, GNAS-related disorder
RS2145916985 GNAS Health Risk Pathogenic Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2145917033 ABHD12 Health Risk Pathogenic —
RS2145917348 GNAS Health Risk Pathogenic —
RS2145917373 RYR1 Health Risk Pathogenic/Likely pathogenic Central core myopathy, RYR1-related disorder
RS2145918040 RYR1 Health Risk Likely pathogenic Malignant hyperthermia of anesthesia, Malignant hyperthermia of anesthesia
RS2145919289 HSF4 Health Risk Likely pathogenic Developmental cataract, Developmental cataract
RS2145919390 COL18A1 Health Risk Pathogenic —
RS2145920428 HSF4 Health Risk Pathogenic Cataract 5 multiple types, Cataract 5 multiple types
RS2145920846 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2145920950 ABHD12 Health Risk Likely pathogenic —
RS2145921196 KCNQ2 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS2145921283 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145921332 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145921462 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145921549 DNASE2 Health Risk Pathogenic Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency, Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency
RS2145921606 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS2145921876 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145922320 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS2145924056 RTTN Health Risk Pathogenic —
RS2145925061 COL18A1 Health Risk Pathogenic —
RS2145927350 CHCHD10 Health Risk Pathogenic Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
RS2145927881 KLF1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia type 4, Congenital dyserythropoietic anemia type 4
RS2145932387 CHEK2 Health Risk Pathogenic Malignant tumor of breast, Malignant tumor of breast
RS2145934671 COL18A1 Health Risk Likely pathogenic Knobloch syndrome, Knobloch syndrome
RS2145935724 ABHD12 Health Risk Pathogenic —
RS2145935797 ABHD12 Health Risk Pathogenic —
RS2145936823 SMARCA4 Health Risk Likely pathogenic Childhood neoplasm, Hereditary cancer-predisposing syndrome
RS2145937134 SMARCA4 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 16
RS2145937523 COL18A1 Health Risk Pathogenic —
RS2145938175 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS2145938177 EEF1A2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 33
RS2145938426 SMARCA4 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 16
RS2145938835 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS2145940591 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS2145941195 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS2145942104 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, SMARCA4-related disorder
RS2145942372 ATP1A3 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS2145944277 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS2145944429 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS2145944441 GREB1L Health Risk Pathogenic Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3
RS2145944530 GREB1L Health Risk Pathogenic Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3
RS2145944794 ATP1A3 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS2145944931 EEF1A2 Health Risk Likely pathogenic —
RS2145944981 EEF1A2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 33
RS2145945412 EEF1A2 Health Risk Likely pathogenic —
RS2145945425 EEF1A2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 33
RS2145945797 ATP1A3 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 99, Developmental and epileptic encephalopathy 99
RS2145945805 ATP1A3 Health Risk Pathogenic Dystonia 12, Dystonia 12
RS2145945849 ATP1A3 Health Risk Pathogenic Dystonia 12, Dystonia 12
RS2145945887 ATP1A3 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS2145945980 ATP1A3 Health Risk Pathogenic —
RS2145946065 ATP1A3 Health Risk Pathogenic Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Developmental and epileptic encephalopathy 99
RS2145946848 EEF1A2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 33
RS2145948130 ATP1A3 Health Risk Likely pathogenic —
RS2145948828 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2145949099 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145949157 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145949378 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145949535 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145949827 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145950047 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS2145950197 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS2145950251 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2145950460 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS2145950548 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145950918 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS2145951020 MYO18B Health Risk Likely pathogenic Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS2145951132 CHEK2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Familial cancer of breast
RS2145951375 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS2145951385 CHEK2 Health Risk Pathogenic Familial cancer of breast, CHEK2-related cancer predisposition
RS2145951528 CHEK2 Health Risk Likely pathogenic Breast carcinoma, Breast carcinoma
RS2145951649 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145952062 SPTBN4 Health Risk Pathogenic —
RS2145952071 SMARCB1 Health Risk Conflicting classifications of pathogenicity —
RS2145952184 SMARCB1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2145952190 SMARCB1 Health Risk Pathogenic —
RS2145952201 SMARCB1 Health Risk Likely pathogenic —
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