Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs120074160
rs120074160
SBDS
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs120074160
rs120074160
SBDS
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs120074160
rs120074160
SBDS
CUI: C0457756
Disease: Tooth absent
Tooth absent 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs120074160
rs120074160
SBDS
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs120074160
rs120074160
SBDS
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs120074160
rs120074160
SBDS
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		A 0.700 GeneticVariation CLINVAR