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rs794726688

From SNPedia

ClinVar
Risk rs794726688(;)
Alt rs794726688(;)
Reference rs794726688(CCGTGCATCCC;CCGTGCATCCC)
Significance Pathogenic
Disease Ectopia lentis Ectopia lentis et pupillae
Variation info
Gene LOC100289061 ADAMTSL4
CLNDBN Ectopia lentis, isolated autosomal recessive Ectopia lentis et pupillae
Reversed 0
HGVS NC_000001.10:g.150526293_150526303delCGTGCATCCCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000032755.3, RCV000032756.3,