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: rs387906973
rs387906973
TWIST2 ; LOC100287387
1 1.000 0.080 2 238848570 stop gained C/T snv 1.0E-05 2.1E-05 0.710 1.000 1 2011 2011
dbSNP: rs387906974
rs387906974
TWIST2 ; LOC100287387
1 1.000 0.080 2 238848408 stop gained C/T snv 0.710 1.000 1 2011 2011
dbSNP: rs774600019
rs774600019
TWIST1
1 1.000 0.080 7 19116836 synonymous variant G/A snv 0.010 1.000 1 2011 2011