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rs1057519626

From SNPedia
ClinVar
Risk rs1057519626(-;-)
Alt rs1057519626(-;-)
Reference Rs1057519626(CTGAGAACTTC;CTGAGAACTTC)
Significance Pathogenic
Disease Arthrogryposis
Variation info
Gene PIEZO2
CLNDBN Arthrogryposis, distal, with impaired proprioception and touch
Reversed 1
HGVS NC_000018.9:g.10762938_10762948delGAAGTTCTCAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000415541.1,