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rs1085307130

From SNPedia

ClinVar
Risk rs1085307130(-;-)
Alt rs1085307130(-;-)
Reference Rs1085307130(CAGCGGGG;CAGCGGGG)
Significance Pathogenic
Disease Smith-McCort dysplasia 2
Variation info
Gene RAB33B LOC101927451
CLNDBN Smith-McCort dysplasia 2
Reversed 0
HGVS NC_000004.11:g.140375397_140375404delCGGGGCAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000488443.1,