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: rs1554442019
rs1554442019
TWIST1
2 0.925 0.080 7 19116976 missense variant G/C snv 0.700 1.000 4 1998 2011
dbSNP: rs104894054
rs104894054
TWIST1
1 1.000 0.080 7 19117013 stop gained G/C;T snv 0.710 1.000 1 2002 2002
dbSNP: rs104894055
rs104894055
TWIST1
2 0.925 0.080 7 19117240 stop gained G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs1554442082
rs1554442082
TWIST1
2 0.925 0.080 7 19117180 frameshift variant CGCGCTGCGCC/- delins 0.700 1.000 2 2003 2013
dbSNP: rs121918497
rs121918497
FGFR2
8 0.776 0.160 10 121520052 missense variant T/G snv 0.010 1.000 1 2006 2006
dbSNP: rs1554441993
rs1554441993
TWIST1
2 0.925 0.080 7 19116913 frameshift variant -/G delins 0.700 1.000 1 2013 2013
dbSNP: rs562297920
rs562297920
FGFR2
1 1.000 0.080 10 121515192 synonymous variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs974173968
rs974173968
FGFR2
3 0.882 0.080 10 121551382 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2015 2015