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rs1057517334

From SNPedia

ClinVar
Risk rs1057517334(-;-)
Alt rs1057517334(-;-)
Reference Rs1057517334(TCAGCATATA;TCAGCATATA)
Significance Probable-Pathogenic
Disease Andermann syndrome
Variation info
Gene SLC12A6
CLNDBN Andermann syndrome
Reversed 1
HGVS NC_000015.9:g.34528992_34529001delTATATGCTGA
CLNSRC
CLNACC RCV000409518.1,