RPS29, ribosomal protein S29, 6235

N. diseases: 32; N. variants: 2
Disease: DIAMOND-BLACKFAN ANEMIA 13 ×
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: rs587777568
rs587777568 		0.925 0.080 14 49586021 missense variant T/A snv
CUI: C4014641
Disease: DIAMOND-BLACKFAN ANEMIA 13
DIAMOND-BLACKFAN ANEMIA 13 		0.800 1.000 1 2014 2014
dbSNP: rs587777569
rs587777569 		0.925 0.080 14 49585963 missense variant A/G snv
CUI: C4014641
Disease: DIAMOND-BLACKFAN ANEMIA 13
DIAMOND-BLACKFAN ANEMIA 13 		0.800 1.000 1 2014 2014