Gene: SP140 ×
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: rs13397985
rs13397985
SP110 ; SP140
5 0.827 0.280 2 230226508 intron variant T/C;G snv 0.830 1.000 6 2008 2014
dbSNP: rs149207840
rs149207840
SP140
4 0.851 0.160 2 230279864 intron variant CTGCCTC/-;CTGCCTCCTGCCTC delins 0.15 0.700 1.000 1 2017 2017
dbSNP: rs34004493
rs34004493
SP140
2 0.925 0.120 2 230289297 intron variant A/G snv 0.19 0.700 1.000 1 2017 2017