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: rs267607012
rs267607012
RFX6
1 1.000 0.160 6 116895184 missense variant T/C snv 0.800 1.000 2 2010 2014
dbSNP: rs267607013
rs267607013
RFX6
1 1.000 0.160 6 116882404 missense variant G/A snv 0.800 1.000 2 2010 2014
dbSNP: rs1445567359
rs1445567359
RFX6
2 1.000 0.160 6 116919268 missense variant G/A snv 8.0E-06 0.710 1.000 1 2016 2016
dbSNP: rs144648002
rs144648002
RFX6
1 1.000 0.160 6 116927317 stop gained C/G;T snv 1.1E-03; 4.0E-06 0.700 0
dbSNP: rs1562146029
rs1562146029
RFX6
2 1.000 0.160 6 116920441 frameshift variant TCTA/- delins 0.700 0
dbSNP: rs587776514
rs587776514
RFX6
1 1.000 0.160 6 116877954 splice donor variant T/C snv 0.700 0
dbSNP: rs587776515
rs587776515
RFX6
1 1.000 0.160 6 116877784 intron variant A/G snv 4.0E-06 0.700 0
dbSNP: rs587776516
rs587776516
RFX6
1 1.000 0.160 6 116895209 splice donor variant T/G snv 0.700 0
dbSNP: rs587776517
rs587776517
RFX6
1 1.000 0.160 6 116911038 splice donor variant AGGTATCAATTACA/- delins 0.700 0
dbSNP: rs587780440
rs587780440
RFX6
1 1.000 0.160 6 116882403 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs749827445
rs749827445
RFX6
1 1.000 0.160 6 116928956 stop gained C/T snv 4.0E-06 1.4E-05 0.700 0