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rs797044841

From SNPedia

ClinVar
Risk
Alt
Reference Rs797044841(CCTGGCTTTCGT;CCTGGCTTTCGT)
Significance Pathogenic
Disease Andersen Tawil syndrome
Variation info
Gene KCNJ2
CLNDBN Andersen Tawil syndrome
Reversed 0
HGVS NC_000017.10:g.68171451_68171462delGCTTTCGTCCTG
CLNSRC
CLNACC RCV000192428.1,