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rs587776598

From SNPedia

ClinVar
Risk rs587776598(GGGCCGTCGCGAGGCT;GGGCCGTCGCGAGGCT)
Alt rs587776598(GGGCCGTCGCGAGGCT;GGGCCGTCGCGAGGCT)
Reference rs587776598(;)
Significance Pathogenic
Disease Diabetes mellitus AND insipidus with optic atrophy AND deafness
Variation info
Gene WFS1
CLNDBN Diabetes mellitus AND insipidus with optic atrophy AND deafness
Reversed 0
HGVS NC_000004.11:g.6290807_6290822dup16
CLNSRC OMIM Allelic Variant
CLNACC RCV000004777.4,