Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3833788
rs3833788
UNC119B
12 120713260 splice acceptor variant CTCTTGT/-;CTCTTGTCTCTTGT delins 0.37
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs56273049
rs56273049
UNC119B
12 120718238 intron variant A/T snv 0.38
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019