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: rs1057515580
rs1057515580
KLHL24
3 0.925 0.080 3 183650358 start lost T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs886037956
rs886037956
KLHL24
3 0.925 0.080 3 183650357 start lost A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs886037957
rs886037957
KLHL24
3 0.925 0.080 3 183650359 start lost G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs137854889
rs137854889
ZMPSTE24
31 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs72645347
rs72645347
COL1A1
10 0.790 0.280 17 50196337 missense variant G/A snv 0.700 0