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rs1057520303

From SNPedia

ClinVar
Risk rs1057520303(-;-)
Alt rs1057520303(-;-)
Reference Rs1057520303(AG;AG)
Significance Pathogenic
Disease Bartter syndrome
Variation info
Gene SLC12A1
CLNDBN Bartter syndrome, type 1, antenatal
Reversed 0
HGVS NC_000015.9:g.48577315_48577316delGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000438920.1,