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: rs121909189
rs121909189
TWIST1
1 1.000 0.080 7 19116930 missense variant A/G snv 0.800 1.000 3 1997 2001
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: 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: rs104894058
rs104894058
TWIST1
1 1.000 0.080 7 19116781 stop gained C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs121909186
rs121909186
TWIST1
1 1.000 0.080 7 19117013 stop gained -/T delins 0.700 0
dbSNP: rs121909187
rs121909187
TWIST1
1 1.000 0.080 7 19116954 stop gained G/T snv 0.700 0
dbSNP: rs1554441989
rs1554441989
TWIST1
1 1.000 0.080 7 19116904 inframe insertion -/GGGCAGCGTGGGGATGATCTT delins 0.700 0
dbSNP: rs879253718
rs879253718
FGFR2
1 1.000 0.080 10 121520109 inframe deletion ACCACT/- del 0.700 0