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: rs2781667
rs2781667
ARG1 ; MED23
4 0.851 0.080 6 131574004 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2019 2019
dbSNP: rs746503158
rs746503158
MTG1
3 1.000 0.040 10 133420125 missense variant A/G;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
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: rs867770797
rs867770797
EDNRA
8 0.851 0.200 4 147519875 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs2070744
rs2070744
NOS3
53 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2016 2016
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2013 2013
dbSNP: rs1406139218
rs1406139218
NPR1
1 1.000 0.040 1 153687341 missense variant C/T snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs760318158
rs760318158
LMNA
1 1.000 0.040 1 156126897 missense variant C/T snv 2.3E-04 6.3E-05 0.010 1.000 1 2015 2015
dbSNP: rs61661343
rs61661343
LMNA
4 0.851 0.040 1 156130687 missense variant T/C snv 0.720 1.000 2 1999 2019
dbSNP: rs28933093
rs28933093
LMNA
3 0.882 0.160 1 156130741 missense variant G/A snv 0.810 1.000 1 1999 2012
dbSNP: rs59026483
rs59026483
LMNA
5 0.827 0.160 1 156134457 missense variant C/T snv 7.0E-06 0.710 0.944 1 1999 2012
dbSNP: rs57045855
rs57045855
LMNA
6 0.882 0.040 1 156134464 missense variant A/G;T snv 0.720 1.000 2 1999 2012
dbSNP: rs58034145
rs58034145
LMNA
10 0.827 0.160 1 156134830 missense variant A/C snv 0.010 1.000 1 2013 2013
dbSNP: rs60682848
rs60682848
LMNA
8 0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 0.030 1.000 3 2007 2020
dbSNP: rs775964460
rs775964460
LMNA
1 1.000 0.040 1 156134883 missense variant C/T snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs397517907
rs397517907
LMNA
2 0.925 0.080 1 156134914 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs59301204
rs59301204
LMNA
3 0.925 0.080 1 156135956 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs138592977
rs138592977
LMNA
3 1.000 0.040 1 156135968 missense variant G/A snv 5.6E-05 6.3E-05 0.010 1.000 1 2012 2012
dbSNP: rs61672878
rs61672878
LMNA
9 0.776 0.200 1 156136094 missense variant G/A;T snv 0.020 1.000 2 2003 2003
dbSNP: rs141490569
rs141490569
LMNA
1 1.000 0.040 1 156136258 missense variant G/A snv 8.0E-05 9.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs267607578
rs267607578
LMNA
1 0.925 0.120 1 156136952 missense variant G/A;C snv 1.4E-05 0.810 1.000 1 1999 2014
dbSNP: rs56984562
rs56984562
LMNA
3 0.827 0.200 1 156137666 missense variant C/A;G;T snv 0.810 1.000 1 1999 2017
dbSNP: rs61444459
rs61444459
LMNA
2 0.851 0.160 1 156137667 missense variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs4641
rs4641
LMNA
6 0.851 0.120 1 156137743 splice region variant C/T snv 0.26 0.21 0.010 1.000 1 2015 2015
dbSNP: rs56657623
rs56657623
LMNA
5 0.827 0.120 1 156138540 missense variant G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2012 2012