RS120074160 SBDS
Upload your DNA to see your genotype for this variant.
What This Variant Does
"[OMIM:?]
Associated Conditions
Splenomegaly
Microcephaly
Deeply set eye
Agenesis of permanent teeth
Short stature
Shwachman-Diamond syndrome 1
Intellectual disability
Inborn genetic diseases
Aplastic anemia
Splenomegaly
Microcephaly
Deeply set eye
Agenesis of permanent teeth
Short stature
Shwachman-Diamond syndrome 1
Population Frequencies
gnomAD ALL
0%
1kG AFR
100%
1kG ALL
0.1%
1kG AMR
0.1%
1kG EAS
100%
1kG EUR
99.9%
1kG SAS
0.1%
Other Variants in SBDS