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: rs1553565140
rs1553565140
TWIST2 ; LOC100287387
3 0.925 0.240 2 238848438 missense variant G/A;C snv 0.700 0
dbSNP: rs1553565143
rs1553565143
TWIST2 ; LOC100287387
1 1.000 0.240 2 238848439 missense variant A/C snv 0.700 0
dbSNP: rs869320750
rs869320750
TWIST2 ; LOC100287387
1 1.000 0.240 2 238848438 inframe insertion -/CAGCGC delins 0.700 0
dbSNP: rs879254764
rs879254764
LDLR
7 0.827 0.360 19 11110752 frameshift variant G/- delins 0.010 1.000 1 2014 2014