Gene: NOTCH4 ×
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: rs3131296
rs3131296
NOTCH4
6 0.807 0.320 6 32205216 intron variant C/T snv 0.11 0.810 0.667 3 2009 2014
dbSNP: rs3132935
rs3132935
NOTCH4
2 0.925 0.160 6 32203298 non coding transcript exon variant A/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs115344853
rs115344853
NOTCH4
2 1.000 0.040 6 32197667 intron variant A/G snv 0.700 1.000 2 2017 2019
dbSNP: rs115963308
rs115963308
NOTCH4
2 1.000 0.040 6 32223264 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs520692
rs520692
NOTCH4
3 0.882 0.120 6 32220863 missense variant T/C snv 0.31 0.29 0.020 0.500 2 2004 2006
dbSNP: rs3134928
rs3134928
NOTCH4
1 1.000 0.040 6 32225787 upstream gene variant C/T snv 0.23 0.010 1.000 1 2013 2013
dbSNP: rs367398
rs367398
NOTCH4
5 0.827 0.160 6 32223953 5 prime UTR variant G/A snv 0.34 0.40 0.010 < 0.001 1 2004 2004
dbSNP: rs387071
rs387071
NOTCH4
1 1.000 0.040 6 32225672 upstream gene variant T/C snv 0.30 0.010 1.000 1 2013 2013