MRPS22, mitochondrial ribosomal protein S22, 56945

N. diseases: 78; N. variants: 15
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: rs753345594
rs753345594 		0.851 0.160 3 139350279 missense variant G/A;T snv 1.6E-05; 4.0E-06
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs940187
rs940187 		1.000 0.080 3 139122751 intron variant T/C snv 0.70
CUI: C0022548
Disease: Keloid
Keloid 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013