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rs1057517156

From SNPedia

ClinVar
Risk rs1057517156(-;-)
Alt rs1057517156(-;-)
Reference Rs1057517156(TGCTTTACATGGA;TGCTTTACATGGA)
Significance Probable-Pathogenic
Disease Bardet-Biedl syndrome 10
Variation info
Gene BBS10
CLNDBN Bardet-Biedl syndrome 10
Reversed 1
HGVS NC_000012.11:g.76740517_76740529delTCCATGTAAAGCA
CLNSRC
CLNACC RCV000409876.1,