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: rs748805008
rs748805008
TCOF1
1 1.000 0.120 5 150372228 stop gained C/A;G;T snv 1.7E-05 0.700 0
dbSNP: rs764314276
rs764314276
TCOF1
3 0.925 0.200 5 150375721 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs797046037
rs797046037
TCOF1
1 1.000 0.120 5 150368722 frameshift variant CA/- delins 0.700 0
dbSNP: rs1275362181
rs1275362181
NCOR2
1 1.000 0.120 12 124356727 synonymous variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs56180593
rs56180593
TCOF1
1 1.000 0.120 5 150361169 missense variant C/T snv 2.1E-03 2.3E-03 0.010 1.000 1 2009 2009