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: rs764841861
rs764841861
STAG3 ; CASTOR3
3 0.925 0.040 7 100204096 stop gained C/T snv 6.0E-05 1.4E-05 0.700 0
dbSNP: rs776453307
rs776453307
TLE6
2 1.000 19 2989674 frameshift variant C/- del 3.6E-05 2.8E-05 0.700 0