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: rs1053004
rs1053004
STAT3
11 0.776 0.280 17 42314074 3 prime UTR variant G/A snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs1353058818
rs1353058818
SP1
2 1.000 0.080 12 53415043 3 prime UTR variant AGAGA/- delins 7.0E-06 0.010 1.000 1 2019 2019