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: rs121913412
rs121913412
CTNNB1
19 0.724 0.280 3 41224633 missense variant A/C;G;T snv 0.020 1.000 2 2012 2013
dbSNP: rs397517907
rs397517907
LMNA
2 0.925 0.080 1 156134914 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs755356995
rs755356995
EGFR
1 1.000 0.040 7 55173039 missense variant T/C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs771893681
rs771893681
LMNA
1 1.000 0.040 1 156115157 missense variant C/T snv 8.3E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs876657850
rs876657850
LMNA
1 1.000 0.040 1 156115148 missense variant T/C snv 0.010 1.000 1 2017 2017