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rs797045476

From SNPedia

ClinVar
Risk rs797045476(C;C)
Alt rs797045476(C;C)
Reference rs797045476(;)
Significance Pathogenic
Disease Knobloch syndrome 1 Knobloch syndrome
Variation info
Gene COL18A1
CLNDBN Knobloch syndrome 1 Knobloch syndrome, type 1
Reversed 0
HGVS NC_000021.8:g.46911189dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000055633.24, RCV000193047.1,