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: rs387906881
rs387906881
GOSR2 ; LRRC37A2
3 0.925 0.120 17 46935122 missense variant G/T snv 6.0E-05 8.4E-05 0.800 1.000 1 2011 2011
dbSNP: rs141554661
rs141554661
GOSR2 ; LRRC37A2
3 0.925 0.040 17 46932200 splice donor variant G/A snv 1.0E-04 2.6E-04 0.700 0
dbSNP: rs863223401
rs863223401
GOSR2 ; LRRC37A2
1 1.000 17 46938606 inframe deletion AGA/- delins 0.700 0