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: rs1135402737
rs1135402737
SMCHD1
1 1.000 0.160 18 2666927 missense variant T/C snv 0.800 1.000 3 2017 2018
dbSNP: rs1135402738
rs1135402738
SMCHD1
1 1.000 0.160 18 2666993 missense variant T/A snv 0.800 1.000 3 2017 2018
dbSNP: rs1135402739
rs1135402739
SMCHD1
1 1.000 0.160 18 2667022 missense variant A/C snv 0.800 1.000 3 2017 2018
dbSNP: rs1057519639
rs1057519639
SMCHD1
2 1.000 0.160 18 2694687 missense variant A/G snv 0.800 1.000 1 2017 2017
dbSNP: rs1057519640
rs1057519640
SMCHD1
1 1.000 0.160 18 2697034 missense variant A/G snv 0.800 1.000 1 2017 2017
dbSNP: rs1057519641
rs1057519641
SMCHD1
1 1.000 0.160 18 2667030 missense variant G/A;C;T snv 5.4E-06 0.800 1.000 1 2017 2017
dbSNP: rs1057519642
rs1057519642
SMCHD1
3 1.000 0.160 18 2697898 missense variant A/T snv 0.800 1.000 1 2017 2017
dbSNP: rs1057519643
rs1057519643
SMCHD1
2 0.925 0.240 18 2667015 missense variant A/C snv 0.800 1.000 1 2017 2017
dbSNP: rs1057519644
rs1057519644
SMCHD1
2 0.925 0.240 18 2667017 missense variant G/A snv 0.800 1.000 1 2017 2017
dbSNP: rs1057519645
rs1057519645
SMCHD1
1 1.000 0.160 18 2667010 missense variant A/T snv 0.800 1.000 1 2017 2017
dbSNP: rs1057519646
rs1057519646
SMCHD1
1 1.000 0.160 18 2667011 missense variant G/A;T snv 0.800 1.000 1 2017 2017
dbSNP: rs1135402740
rs1135402740
SMCHD1
4 0.925 0.240 18 2674018 missense variant T/G snv 0.800 1.000 1 2017 2017
dbSNP: rs1135402741
rs1135402741
SMCHD1
1 1.000 0.160 18 2688480 missense variant C/G snv 0.800 1.000 1 2017 2017
dbSNP: rs1135402742
rs1135402742
SMCHD1
1 1.000 0.160 18 2697958 missense variant A/T snv 0.800 1.000 1 2017 2017
dbSNP: rs1135402743
rs1135402743
SMCHD1
1 1.000 0.160 18 2700613 missense variant G/C snv 0.800 1.000 1 2017 2017
dbSNP: rs1135402744
rs1135402744
SMCHD1
1 1.000 0.160 18 2700839 missense variant C/A snv 0.800 1.000 1 2017 2017
dbSNP: rs1135402745
rs1135402745
SMCHD1
1 1.000 0.160 18 2700842 missense variant A/G snv 0.800 1.000 1 2017 2017
dbSNP: rs886042392
rs886042392
SMCHD1
1 1.000 0.160 18 2703699 missense variant G/A snv 0.700 0