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: rs1531343
rs1531343
RPSAP52
2 0.925 0.160 12 65781114 intron variant G/C;T snv 0.810 1.000 5 2010 2017