RS113993993 SBDS
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What This Variant Does
"[OMIM:?]
Associated Conditions
Aplastic anemia
susceptibility to
Shwachman-Diamond syndrome 1
Inborn genetic diseases
Microcephaly
Splenomegaly
Agenesis of permanent teeth
Deeply set eye
Short stature
Shwachman syndrome
SBDS-related disorder
Lymphoma
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
Other Variants in SBDS