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
RS2143731723 CCBE1 Health Risk Likely pathogenic —
RS2143731999 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2143732272 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143733843 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2143735173 CCDC40 Health Risk Pathogenic —
RS2143735253 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS2143737350 MKS1 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2143737457 MKS1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 28, Joubert syndrome
RS2143742869 MKS1 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2143742992 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
RS2143744121 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
RS2143744476 MKS1 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2143744820 MKS1 Health Risk Pathogenic —
RS2143746162 RAD51C Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group O, Breast-ovarian cancer
RS2143746632 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS2143746667 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Breast-ovarian cancer
RS2143746939 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS2143747219 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS2143747561 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Breast-ovarian cancer
RS2143747843 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS2143748292 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
RS2143748349 CCDC40 Health Risk Likely pathogenic Primary ciliary dyskinesia 15, Primary ciliary dyskinesia 15
RS2143749742 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS2143749861 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS2143751393 MKS1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2143753386 MKS1 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 1
RS2143755133 CCDC40 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2143756208 ZNF668 Health Risk Pathogenic marked facial dysmorphism, Profound global developmental delay
RS2143756871 MKS1 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2143773909 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2143773941 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143774090 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143774183 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143774209 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143774220 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143774762 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143775617 ACTG1 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 20, Autosomal dominant nonsyndromic hearing loss 20
RS2143775658 ACTG1 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hearing impairment
RS2143775764 ACTG1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
RS2143775790 ACTG1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
RS2143775813 ACTG1 Health Risk Likely pathogenic —
RS2143776740 ACTG1 Health Risk Likely pathogenic —
RS2143777099 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2143777263 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143777361 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143777575 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143777901 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143777988 MKS1 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2143778074 MKS1 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2143778877 ACTG1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 20, Autosomal dominant nonsyndromic hearing loss 20
RS2143778936 HYDIN Health Risk Pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS2143779081 ACTG1 Health Risk Likely pathogenic Baraitser-winter syndrome 2, Baraitser-winter syndrome 2
RS2143779222 ACTG1 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 20, Autosomal dominant nonsyndromic hearing loss 20
RS2143779274 ACTG1 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 20, Autosomal dominant nonsyndromic hearing loss 20
RS2143781646 CCDC40 Health Risk Likely pathogenic Primary ciliary dyskinesia 15, Primary ciliary dyskinesia 15
RS2143782472 LAMA1 Health Risk Likely pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS2143782841 BCAS3 Health Risk Pathogenic/Likely pathogenic Global developmental delay, Hengel-Maroofian-Schols syndrome
RS2143783696 ACTG1 Health Risk Pathogenic Baraitser-winter syndrome 2, Baraitser-winter syndrome 2
RS2143784739 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143784912 PIEZO2 Health Risk Pathogenic —
RS2143784954 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143785161 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143785195 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143785464 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143785630 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143785819 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143785938 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143786045 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2143786053 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143786096 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143786188 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143786248 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143786391 NF1 Health Risk Pathogenic —
RS2143786639 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143786875 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143789412 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2143792571 TBX4 Health Risk Likely pathogenic Pulmonary hypertension, primary
RS2143792602 TBX4 Health Risk Likely pathogenic Pulmonary hypertension, primary
RS2143792897 TBX4 Health Risk Likely pathogenic Pulmonary hypertension, primary
RS2143795994 TBX4 Health Risk Pathogenic/Likely pathogenic Pulmonary hypertension, primary
RS2143797889 RAD51C Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group O, Breast-ovarian cancer
RS2143797916 RAD51C Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2143798127 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2143798753 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
RS2143800709 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
RS2143800757 MKS1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2143800981 MAF Health Risk Likely pathogenic Cataract 21 multiple types, Cataract 21 multiple types
RS2143801496 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS2143801614 SMCHD1 Health Risk Pathogenic Muscle weakness, Facioscapulohumeral muscular dystrophy 2
RS2143801795 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS2143801832 RAD51C Health Risk Pathogenic —
RS2143802342 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS2143805609 MKS1 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2143805963 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2143816916 MAF Health Risk Likely pathogenic Cataract 21 multiple types, Cataract 21 multiple types
RS2143820144 MAP3K14 Health Risk Likely pathogenic NIK deficiency, NIK deficiency
RS2143820895 TBX4 Health Risk Conflicting classifications of pathogenicity Coxopodopatellar syndrome, Pulmonary hypertension
RS2143821228 TBX4 Health Risk Pathogenic Autosomal recessive amelia, Autosomal recessive amelia
RS2143821238 TBX4 Health Risk Likely pathogenic Pulmonary hypertension, primary
RS2143821653 LOXHD1 Health Risk Pathogenic —
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