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: rs1085307090
rs1085307090
RECQL4
3 0.882 0.240 8 144515325 splice donor variant C/A snv 0.700 1.000 2 2000 2003
dbSNP: rs1564804479
rs1564804479
RECQL4
1 1.000 0.120 8 144515873 stop gained C/T snv 0.700 1.000 1 2007 2007
dbSNP: rs117642173
rs117642173
RECQL4
2 0.925 0.160 8 144515243 splice acceptor variant C/T snv 3.6E-05 4.9E-05 0.700 0
dbSNP: rs137853229
rs137853229
RECQL4
5 0.851 0.240 8 144513412 stop gained G/A snv 1.2E-04 8.4E-05 0.700 0
dbSNP: rs1554896308
rs1554896308
RECQL4
1 1.000 0.120 8 144512010 frameshift variant -/TGCTGCGCTCCTCATCCTGC ins 0.700 0
dbSNP: rs1554898257
rs1554898257
RECQL4
1 1.000 0.120 8 144513324 frameshift variant ACAGCCCGCACATCTGGCCGGT/- del 0.700 0
dbSNP: rs386833845
rs386833845
RECQL4
5 0.827 0.240 8 144514983 frameshift variant A/- del 2.4E-04 3.3E-04 0.700 0
dbSNP: rs386833849
rs386833849
RECQL4
2 0.925 0.240 8 144513713 splice acceptor variant C/A;G;T snv 0.700 0
dbSNP: rs752729755
rs752729755
RECQL4
2 0.925 0.160 8 144513109 frameshift variant AT/- del 2.8E-05 0.700 0
dbSNP: rs760363252
rs760363252
RECQL4
2 0.925 0.160 8 144514441 splice donor variant C/T snv 4.1E-06 0.700 0
dbSNP: rs786200887
rs786200887
RECQL4
1 1.000 0.120 8 144514490 frameshift variant AGGCCGC/- delins 0.700 0
dbSNP: rs786200890
rs786200890
RECQL4
1 1.000 0.120 8 144514062 inframe deletion CTGTGA/- del 0.700 0