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rs797045688

From SNPedia

ClinVar
Risk rs797045688(-;-)
Alt rs797045688(-;-)
Reference Rs797045688(CTGAAGGATGGGA;CTGAAGGATGGGA)
Significance Probable-Pathogenic
Disease Mental retardation
Variation info
Gene MAN1B1
CLNDBN Mental retardation, autosomal recessive 15
Reversed 0
HGVS NC_000009.11:g.139990753_139990765delTGAAGGATGGGAC
CLNSRC
CLNACC RCV000194566.1,