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: rs587777406
rs587777406
DEAF1
1 1.000 11 686979 missense variant A/C snv 0.800 1.000 2 2010 2014
dbSNP: rs587777408
rs587777408
DEAF1
1 1.000 11 686992 missense variant G/A snv 0.800 1.000 2 2010 2014
dbSNP: rs587777409
rs587777409
DEAF1
1 1.000 11 686900 missense variant T/G snv 0.800 1.000 2 2010 2014
dbSNP: rs1057524157
rs1057524157
DEAF1
19 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017
dbSNP: rs587777407
rs587777407
DEAF1
1 1.000 11 686871 missense variant T/G snv 0.700 1.000 2 2010 2014
dbSNP: rs1057519565
rs1057519565
DEAF1
9 0.851 0.200 11 687941 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554943158
rs1554943158
DEAF1
6 0.882 0.040 11 681045 inframe deletion CTT/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1554944271
rs1554944271
DEAF1
14 0.851 0.240 11 686925 missense variant C/G snv 0.700 1.000 1 2017 2017
dbSNP: rs886040972
rs886040972
DEAF1
1 1.000 11 680959 splice region variant T/G snv 0.700 1.000 1 2001 2001