rs1562358749, TRDN

N. diseases: 1
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
121 1.000 0.080 6 123515647 splice donor variant GGCATGAAATGGGAGCCAGTAGGCTGGGAGCAAGGTGAGAGGAAGGTTTTCACAAAGTATCTTTATGTGTTGAGCAATTAGAACTTATTATCTATTCTACATAAATAAATAACAATTAGAAATTAAAGCAATCTAATAGATAATCAAAATATGCAAGTTATAATAATGAGATCTACTTTCTTACCTATCAAACTGACAAGTATTTCTGATATAATATCCTCACTGCTGGCTAAGGCAGTCTCAAAACTGCCAGAGGAAAAACTGACGCAACATTTCTGGAAAGTTACCACTTTCCAGTTCAACAGTTCTTAACAGTCTGAAGTATTTTATTTCTCTCAATCCAGAAATTCCTTTTTTCAGATTCTATTCTGAGAAAATAATCCTAATCTAATTTGTAAAACTGCGTGGTCATCTAAAATCTGAATGTAAAGAGTAGGAAGTCAATGGGAAAGGACTCAGTGTGTTAAACAGTAATAAAAGTAACTTCATACCTTTCTTTTCAGGTTTTTCTTTTTCTCTTACTTT/- delins 0.700 0