Gene: NOTCH3 ×
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: rs1568362252
rs1568362252
NOTCH3
1 19 15192490 missense variant C/T snv 0.700 0
dbSNP: rs28933696
rs28933696
NOTCH3
5 0.882 0.160 19 15192134 missense variant G/A snv 0.700 0
dbSNP: rs201118034
rs201118034
NOTCH3
6 0.827 0.200 19 15187315 missense variant G/A;C snv 3.2E-04; 4.0E-06 0.030 1.000 3 2013 2019
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 2015 2015
dbSNP: rs137852642
rs137852642
NOTCH3
9 0.827 0.200 19 15192242 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.010 1.000 1 2015 2015
dbSNP: rs1555729486
rs1555729486
NOTCH3
2 1.000 19 15192118 missense variant C/A;T snv 0.010 1.000 1 2004 2004
dbSNP: rs28933698
rs28933698
NOTCH3
4 0.882 0.160 19 15189004 missense variant A/G snv 0.010 1.000 1 2002 2002
dbSNP: rs3815188
rs3815188
NOTCH3
6 0.827 0.120 19 15192414 synonymous variant G/A;T snv 0.17 0.010 1.000 1 2013 2013
dbSNP: rs61749020
rs61749020
NOTCH3
1 19 15189325 synonymous variant A/C;G;T snv 2.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs75068032
rs75068032
NOTCH3
5 0.851 0.160 19 15187273 missense variant G/A;C;T snv 2.4E-05; 5.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs773539041
rs773539041
NOTCH3
2 1.000 19 15192289 missense variant C/A;T snv 0.010 1.000 1 2004 2004