SHROOM4, shroom family member 4, 57477

N. diseases: 42; N. variants: 4
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121434620
rs121434620 		1.000 0.080 X 50607876 missense variant G/A snv 5.6E-06
CUI: C1845530
Disease: Stocco dos Santos syndrome
Stocco dos Santos syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 0
dbSNP: rs17281496
rs17281496 		1.000 0.080 X 50592675 3 prime UTR variant G/C snv 5.3E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs781838721
rs781838721 		X 50598688 intron variant A/G snv 1.6E-03
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs189694750
rs189694750 		1.000 0.080 X 50635637 missense variant G/A snv 6.8E-04 2.4E-04
CUI: C1845530
Disease: Stocco dos Santos syndrome
Stocco dos Santos syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0