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
RS1555186053 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555186066 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1555186079 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1555186087 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555186093 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS1555186232 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555186257 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555186428 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555186436 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1555186520 KMT2D Health Risk Pathogenic Malignant tumor of esophagus, Malignant tumor of esophagus
RS1555186527 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555186619 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555186627 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555186662 SDHD Health Risk Pathogenic/Likely pathogenic Pheochromocytoma/paraganglioma syndrome 1, Pheochromocytoma
RS1555186671 SDHD Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Pheochromocytoma
RS1555186842 KMT2D Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555186937 B4GALNT1 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1555186992 SDHD Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555187010 SDHD Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Paragangliomas with sensorineural hearing loss
RS1555187067 SDHD Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 1, Pheochromocytoma/paraganglioma syndrome 1
RS1555187083 SDHD Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS1555187084 SDHD Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cowden syndrome 3
RS1555187105 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1555187117 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome
RS1555187440 KMT2D Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555187452 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555187461 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555187485 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555187565 SDHD Health Risk Conflicting classifications of pathogenicity Carney-Stratakis syndrome, Cowden syndrome 3
RS1555187566 SDHD Health Risk Likely pathogenic Mitochondrial complex 2 deficiency, nuclear type 3
RS1555187570 SDHD Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS1555187574 SDHD Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 1
RS1555187575 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555187577 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555187583 SDHD Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 1, Pheochromocytoma
RS1555187601 SDHD Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Paragangliomas with sensorineural hearing loss
RS1555187606 SDHD Health Risk Conflicting classifications of pathogenicity Paragangliomas with sensorineural hearing loss, Cowden syndrome 3
RS1555187635 SDHD Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555187741 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555187758 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1555187869 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome
RS1555187899 KMT2D Health Risk Pathogenic Autism, Autism
RS1555187956 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome 1
RS1555188026 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555188080 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome
RS1555188129 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555188155 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555188332 GPD1 Health Risk Pathogenic —
RS1555188379 KMT2D Health Risk Pathogenic Inborn genetic diseases, Kabuki syndrome
RS1555188430 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555188469 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555188501 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1555188515 KMT2D Health Risk Pathogenic —
RS1555188518 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome, Kabuki syndrome 1
RS1555188520 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555188537 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555188561 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555188623 KMT2D Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555188651 KMT2D Health Risk Pathogenic —
RS1555188653 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555188670 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555188687 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555188704 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome, Kabuki syndrome 1
RS1555188885 KMT2D Health Risk Pathogenic —
RS1555189038 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome
RS1555189207 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS1555189307 KMT2D Health Risk Likely pathogenic Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome, KMT2D-related disorder
RS1555189421 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555189450 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555189455 KMT2D Health Risk Pathogenic —
RS1555189467 KMT2D Health Risk Likely pathogenic —
RS1555190224 KMT2D Health Risk Pathogenic —
RS1555190324 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1555190375 KMT2D Health Risk Pathogenic Kabuki syndrome 1, CHARGE syndrome
RS1555190391 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555190514 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS1555190550 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555190559 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1555190635 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555190745 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1555190806 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555190907 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555190924 KMT2D Health Risk Pathogenic —
RS1555190956 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1555190969 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1555190992 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1555191101 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1555191105 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1555191147 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555191177 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555191203 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome
RS1555191210 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1555191211 SLC37A4 Health Risk Likely pathogenic —
RS1555191324 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555191350 LEMD3 Health Risk Likely pathogenic —
RS1555191406 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1555191512 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1555191521 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1555191573 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1555191580 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
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