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
RS1569042640 TRIOBP Health Risk Pathogenic —
RS1569042693 TRIOBP Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS1569042782 TRIOBP Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 28, Hearing loss
RS1569044747 IL2RB Health Risk Pathogenic Ichthyosis, Ichthyosis
RS1569044884 TBX4 Health Risk Pathogenic Coxopodopatellar syndrome, Coxopodopatellar syndrome
RS1569046250 TRIOBP Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS1569046598 TBX4 Health Risk Pathogenic Coxopodopatellar syndrome, Coxopodopatellar syndrome
RS1569049136 TRIOBP Health Risk Likely pathogenic —
RS1569050345 SON Health Risk Likely pathogenic ZTTK syndrome, ZTTK syndrome
RS1569052840 SON Health Risk Pathogenic —
RS1569053308 SON Health Risk Pathogenic ZTTK syndrome, ZTTK syndrome
RS1569054086 CHKB Health Risk Pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS1569054508 CHKB Health Risk Pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS1569055781 SON Health Risk Pathogenic ZTTK syndrome, ZTTK syndrome
RS1569056484 SON Health Risk Likely pathogenic ZTTK syndrome, ZTTK syndrome
RS1569057333 SON Health Risk Likely pathogenic ZTTK syndrome, ZTTK syndrome
RS1569057837 FRMPD4 Health Risk Pathogenic Intellectual disability, X-linked 104
RS1569058041 SON Health Risk Likely pathogenic ZTTK syndrome, ZTTK syndrome
RS1569058837 SON Health Risk Pathogenic —
RS1569059249 ANOS1 Health Risk Likely pathogenic —
RS1569059792 SON Health Risk Pathogenic ZTTK syndrome, ZTTK syndrome
RS1569060096 TRMU Health Risk Conflicting classifications of pathogenicity —
RS1569061762 RUNX1 Health Risk Pathogenic Thrombocytopenia, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
RS1569061768 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Thrombocytopenia
RS1569061786 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Thrombocytopenia
RS1569061799 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS1569061831 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS1569064110 GRIN2D Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 46
RS1569065861 GRIN2D Health Risk Pathogenic Developmental and epileptic encephalopathy, 46
RS1569065866 GRIN2D Health Risk Pathogenic Developmental and epileptic encephalopathy, 46
RS1569067939 DEPDC5 Health Risk Pathogenic Epilepsy, familial focal
RS1569069402 ERG Health Risk Pathogenic Lymphatic malformation 14, Lymphatic malformation 14
RS1569071931 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS1569072024 MCM3AP Health Risk Pathogenic Peripheral neuropathy, autosomal recessive
RS1569072157 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS1569073058 MCM3AP Health Risk Pathogenic Peripheral neuropathy, autosomal recessive
RS1569074977 MCM3AP Health Risk Pathogenic Peripheral neuropathy, autosomal recessive
RS1569074992 MCM3AP Health Risk Pathogenic Peripheral neuropathy, autosomal recessive
RS1569075471 SYNJ1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 1
RS1569077009 CSNK1E Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS1569077441 IFT27 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 19
RS1569077723 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1569078774 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS1569078784 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Pancytopenia
RS1569078799 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS1569079076 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
RS1569081077 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1569081805 TRMU Health Risk Conflicting classifications of pathogenicity —
RS1569081823 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1569082469 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1569082621 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1569083185 FANCB Health Risk Pathogenic Fanconi anemia complementation group B, Fanconi anemia complementation group B
RS1569083464 FANCB Health Risk Pathogenic Fanconi anemia complementation group B, Fanconi anemia complementation group B
RS1569083500 DEPDC5 Health Risk Likely pathogenic Epilepsy, familial focal
RS1569083679 FANCB Health Risk Pathogenic Fanconi anemia complementation group B, Fanconi anemia complementation group B
RS1569084032 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS1569084082 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
RS1569084106 RUNX1 Health Risk Likely pathogenic Thrombocytopenia, Acute myeloid leukemia
RS1569084116 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, RUNX1-related disorder
RS1569084170 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Acute myeloid leukemia
RS1569084388 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS1569084451 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS1569084530 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS1569084646 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
RS1569085428 MCM3AP Health Risk Pathogenic —
RS1569085580 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1569085810 FANCB Health Risk Pathogenic Fanconi anemia complementation group B, Fanconi anemia complementation group B
RS1569086116 SYNJ1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 53
RS1569086477 MCM3AP Health Risk Pathogenic Peripheral neuropathy, autosomal recessive
RS1569090318 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, EP300-related disorder
RS1569090642 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1569090870 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1569096551 ADSL Health Risk Pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS1569097392 SHANK3 Health Risk Pathogenic/Likely pathogenic Seizure, Global developmental delay
RS1569099793 ADSL Health Risk Pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS1569100177 RIPK4 Health Risk Pathogenic Bartsocas-Papas syndrome 1, Bartsocas-Papas syndrome 1
RS1569102786 OFD1 Health Risk Likely pathogenic Joubert syndrome, Orofaciodigital syndrome I
RS1569104011 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Malignant tumor of breast
RS1569107391 EP300 Health Risk Pathogenic —
RS1569108381 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1569109423 TUBGCP6 Health Risk Pathogenic —
RS1569110700 TCF20 Health Risk Pathogenic Autistic behavior, Hypotonia
RS1569111699 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1569112324 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1569112355 LARGE1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
RS1569112557 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1569113445 TLR8 Health Risk association Osteoarthritis, Osteoarthritis
RS1569113447 TLR8 Health Risk association Osteoarthritis, Osteoarthritis
RS1569113653 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1569114113 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1569115687 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Malignant lymphoma
RS1569115756 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS1569116167 SHANK3 Health Risk Likely pathogenic —
RS1569116316 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1569116595 SHANK3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1569118537 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Colorectal carcinoma
RS1569118680 NLGN4X Health Risk Pathogenic; risk factor Autism, susceptibility to
RS1569118851 GPR143 Health Risk Pathogenic Nystagmus 6, congenital
RS1569118853 NLGN4X Health Risk risk factor Autism, susceptibility to
RS1569119395 WNT7B Health Risk Pathogenic Matthew-Wood syndrome, See cases
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