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rs587778786

From SNPedia

ClinVar
Risk rs587778786(;)
Alt rs587778786(;)
Reference rs587778786(GGACCGCGGGGGCGG;GGACCGCGGGGGCGG)
Significance Pathogenic
Disease Holoprosencephaly 3
Variation info
Gene SHH
CLNDBN Holoprosencephaly 3
Reversed 1
HGVS NC_000007.13:g.155595759_155595773delGCCCCCGCGGTCCCC
CLNSRC
CLNACC RCV000056089.1,