Gene: C2-AS1 ×
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: rs9332739
rs9332739
C2 ; CYP21A2 ; C2-AS1
10 0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02 0.860 1.000 8 2006 2018
dbSNP: rs9380272
rs9380272
C2 ; CYP21A2 ; C2-AS1
1 1.000 0.040 6 31938233 intron variant G/A snv 0.800 1.000 1 2010 2010
dbSNP: rs1042663
rs1042663
C2 ; CYP21A2 ; C2-AS1
3 0.925 0.160 6 31937353 synonymous variant G/A snv 9.7E-02 0.12 0.700 1.000 1 2012 2012
dbSNP: rs550605
rs550605
C2 ; CYP21A2 ; C2-AS1
2 0.925 0.160 6 31939370 intron variant T/C snv 9.7E-02 0.12 0.700 1.000 1 2012 2012
dbSNP: rs547154
rs547154
C2 ; CYP21A2 ; C2-AS1
3 0.882 0.160 6 31943161 intron variant G/T snv 0.12 0.100 1.000 14 2007 2018
dbSNP: rs757537938
rs757537938
C2 ; CYP21A2 ; C2-AS1
3 0.882 0.200 6 31943672 missense variant A/C snv 4.1E-06 0.030 1.000 3 2006 2009