Source: BEFREE ×
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: rs1043994
rs1043994
NOTCH3
7 0.827 0.120 19 15192033 synonymous variant T/A;C snv 4.0E-06; 0.85 0.010 1.000 1 2014 2014
dbSNP: rs10941679
rs10941679 		11 0.763 0.120 5 44706396 intergenic variant A/G snv 0.25 0.010 1.000 1 2011 2011
dbSNP: rs11249433
rs11249433
EMBP1
8 0.827 0.160 1 121538815 intron variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs3124591
rs3124591
NOTCH1
6 0.827 0.120 9 136495945 3 prime UTR variant C/T snv 0.62 0.010 1.000 1 2014 2014
dbSNP: rs367398
rs367398
NOTCH4
5 0.827 0.160 6 32223953 5 prime UTR variant G/A snv 0.34 0.40 0.010 1.000 1 2014 2014
dbSNP: rs3815188
rs3815188
NOTCH3
6 0.827 0.120 19 15192414 synonymous variant G/A;T snv 0.17 0.010 1.000 1 2014 2014
dbSNP: rs520692
rs520692
NOTCH4
3 0.882 0.120 6 32220863 missense variant T/C snv 0.31 0.29 0.010 1.000 1 2014 2014
dbSNP: rs75915166
rs75915166 		2 0.882 0.080 11 69564393 TF binding site variant C/A snv 3.9E-02 0.010 1.000 1 2016 2016
dbSNP: rs80358829
rs80358829
BRCA2
6 0.827 0.120 13 32340327 missense variant C/T snv 0.010 1.000 1 2005 2005