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: 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: rs121918491
rs121918491
FGFR2
15 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 0.700 0
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: rs1563160337
rs1563160337
TWIST1
2 0.925 0.080 7 19117211 frameshift variant CGTCCCCCGCGCTTGCCGCTCG/- delins 0.700 0
dbSNP: rs879253718
rs879253718
FGFR2
1 1.000 0.080 10 121520109 inframe deletion ACCACT/- del 0.700 0
dbSNP: rs1554441991
rs1554441991
TWIST1
2 0.925 0.080 7 19116905 inframe insertion -/GGCAGCGTGGGGATGATCTTC delins 0.700 1.000 7 1997 2010
dbSNP: rs1554441989
rs1554441989
TWIST1
1 1.000 0.080 7 19116904 inframe insertion -/GGGCAGCGTGGGGATGATCTT delins 0.700 0