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: rs744166
rs744166
STAT3
22 0.689 0.560 17 42362183 intron variant A/G snv 0.48 0.010 1.000 1 2018 2018
dbSNP: rs7574862
rs7574862
KCNIP3
1 1.000 0.040 2 95302457 intron variant A/G snv 0.78 0.010 1.000 1 2012 2012
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.020 1.000 2 2012 2018
dbSNP: rs767215758
rs767215758
NBN
4 0.882 0.160 8 89958819 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.010 1.000 1 2016 2016