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: rs104893736
rs104893736
CRYGS
5 0.827 0.040 3 186539566 missense variant C/A snv 0.010 1.000 1 2013 2013
dbSNP: rs1063147
rs1063147
BLM
6 0.807 0.120 15 90811275 synonymous variant C/T snv 0.15 0.010 1.000 1 2013 2013
dbSNP: rs11574311
rs11574311
WRN
8 0.776 0.160 8 31119144 intron variant T/C snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs13155993
rs13155993
CTNND2
1 1.000 0.040 5 11108043 intron variant C/T snv 7.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs13170756
rs13170756
CTNND2
1 1.000 0.040 5 11110237 intron variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs17183619
rs17183619
CTNND2
1 1.000 0.040 5 11111141 intron variant T/G snv 7.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs2096488
rs2096488
APP
1 1.000 0.040 21 25971876 intron variant A/C snv 0.17 0.010 1.000 1 2012 2012
dbSNP: rs2132397
rs2132397
GJA8 ; LOC105371229
2 0.925 0.120 1 147909431 downstream gene variant A/G snv 0.17 0.010 1.000 1 2018 2018
dbSNP: rs2725338
rs2725338
WRN
7 0.790 0.120 8 31042501 intron variant G/A snv 7.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs2725383
rs2725383
WRN
6 0.807 0.120 8 31075099 intron variant C/G snv 0.76 0.010 1.000 1 2013 2013
dbSNP: rs4733220
rs4733220
WRN
6 0.807 0.120 8 31043374 intron variant A/G snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs6657114
rs6657114
GJA8
2 0.925 0.120 1 147905591 upstream gene variant G/T snv 0.27 0.010 1.000 1 2018 2018
dbSNP: rs6678616
rs6678616
EPHA2
1 1.000 0.040 1 16148628 synonymous variant C/G;T snv 0.30 0.010 1.000 1 2009 2009
dbSNP: rs7541950
rs7541950
GJA8
2 0.925 0.120 1 147903855 upstream gene variant C/T snv 0.55 0.010 1.000 1 2018 2018
dbSNP: rs9640883
rs9640883
LOC105375519
4 0.882 0.120 7 134431881 intron variant G/A snv 0.21 0.010 < 0.001 1 2018 2018