TMEM98, transmembrane protein 98, 26022

N. diseases: 22; N. variants: 3
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: rs587777690
rs587777690 		0.925 0.080 17 32940889 missense variant G/C;T snv 4.0E-06
CUI: C4014848
Disease: NANOPHTHALMOS 4
NANOPHTHALMOS 4 		0.800 1.000 2 2014 2015
dbSNP: rs869312733
rs869312733 		0.925 0.080 17 32940899 missense variant A/C snv
CUI: C4014848
Disease: NANOPHTHALMOS 4
NANOPHTHALMOS 4 		0.800 1.000 2 2014 2015
dbSNP: rs869312734
rs869312734 		1.000 17 32933276 splice donor variant AGAATGAAGACTGGATCGAAGATGCCTCGTAAGG/- delins
CUI: C4014848
Disease: NANOPHTHALMOS 4
NANOPHTHALMOS 4 		0.700 0
dbSNP: rs869312733
rs869312733 		0.925 0.080 17 32940899 missense variant A/C snv
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2015 2019
dbSNP: rs587777690
rs587777690 		0.925 0.080 17 32940889 missense variant G/C;T snv 4.0E-06
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019