Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1131692040
rs1131692040
RPL10 ; SNORA70
4 0.882 0.160 X 154399844 missense variant A/G snv 0.010 1.000 1 2018 2018