Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs17576
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0004096
Disease: Asthma
Asthma 		0.030 0.333 3 2005 2019
dbSNP: rs17577
rs17577
MMP9 ; SLC12A5-AS1
0.649 0.520 20 46014472 missense variant G/A;C snv 0.16
CUI: C0004096
Disease: Asthma
Asthma 		0.020 1.000 2 2013 2019
dbSNP: rs13925
rs13925
MMP9 ; SLC12A5-AS1
1.000 0.080 20 46016326 synonymous variant G/A snv 0.15 0.15
CUI: C0004096
Disease: Asthma
Asthma 		0.010 1.000 1 2018 2018
dbSNP: rs20544
rs20544
MMP9 ; SLC12A5-AS1
0.925 0.120 20 46016371 3 prime UTR variant C/T snv 0.43 0.44
CUI: C0004096
Disease: Asthma
Asthma 		0.010 1.000 1 2018 2018
dbSNP: rs3918242
rs3918242
MMP9
0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14
CUI: C0004096
Disease: Asthma
Asthma 		0.010 < 0.001 1 2019 2019
dbSNP: rs3918249
rs3918249
MMP9
0.807 0.200 20 46009497 intron variant T/C snv 0.41
CUI: C0004096
Disease: Asthma
Asthma 		0.010 1.000 1 2013 2013