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. 2022 Aug 19;13:985500. doi: 10.3389/fgene.2022.985500

TABLE 2.

Some selected SNPs and comparisons of their concepts under SNPMap and ClinVar.

SNPMap (diseases) ClinVar
rs146632606 Gitelman syndrome, Monogenic urinary stone disease, hyperoxaluria, atherosclerosis, hypertension, hypotension, hypocalciuria, secondary hyperaldosteronism Gitelman syndrome
rs7482144 Breast/ovarian cancer, cutaneous melanoma, melanoma Breast/ovarian cancer, hereditary cancer-predisposing syndrome
rs80358086 Breast cancer, cancer Breast cancer, cancer, hereditary cancer-predisposing syndrome, Hereditary breast and ovarian cancer syndrome, ovarian cancer
rs137853334 Diabetes mellitus, hepatocellular carcinoma, Congenital hyperinsulinism, hyperinsulinaemic hypoglycaemia, hyperglycemia, hypoglycaemia Diabetes mellitus
rs199498900 Walker-warburg syndrome, limb girdle muscular dystrophy, congenital muscular dystrophy, brain anomaly, ocular abnomality Walker-warburg syndrome, limb girdle muscular dystrophy, congenital muscular dystrophy
rs111656822 Epilepsy, carnitine deficiency, idiopathic generalized epilepsy Epilepsy, Epilepsy with grand mal seizures on awakening, Leukoencephalopathy with ataxia