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: rs1554441991
rs1554441991
TWIST1
2 0.925 0.080 7 19116905 inframe insertion -/GGCAGCGTGGGGATGATCTTC delins 0.700 1.000 7 1997 2010
dbSNP: rs1554442019
rs1554442019
TWIST1
2 0.925 0.080 7 19116976 missense variant G/C snv 0.700 1.000 4 1998 2011
dbSNP: rs121909188
rs121909188
TWIST1
2 0.925 0.080 7 19116946 stop gained C/A snv 0.700 1.000 5 1997 2013
dbSNP: rs1554442082
rs1554442082
TWIST1
2 0.925 0.080 7 19117180 frameshift variant CGCGCTGCGCC/- delins 0.700 1.000 2 2003 2013
dbSNP: rs1554441993
rs1554441993
TWIST1
2 0.925 0.080 7 19116913 frameshift variant -/G delins 0.700 1.000 1 2013 2013
dbSNP: rs1554441995
rs1554441995
TWIST1
2 0.925 0.080 7 19116927 missense variant C/G snv 0.700 1.000 10 1998 2015
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