Gene: CFB ×
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: rs641153
rs641153
CFB ; CYP21A2
7 0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06 0.900 0.947 19 2007 2019
dbSNP: rs541862
rs541862
CFB ; CYP21A2
3 0.882 0.160 6 31949174 non coding transcript exon variant T/C snv 0.12 0.810 1.000 3 2012 2013
dbSNP: rs522162
rs522162
CFB ; CYP21A2 ; NELFE
2 0.925 0.160 6 31952140 3 prime UTR variant T/C snv 0.12 0.800 1.000 1 2013 2013
dbSNP: rs4151667
rs4151667
CFB ; CYP21A2
9 0.790 0.320 6 31946247 missense variant T/A snv 3.9E-02 3.4E-02 0.070 1.000 7 2009 2019
dbSNP: rs2072633
rs2072633
CFB ; CYP21A2 ; NELFE
6 0.807 0.320 6 31951801 3 prime UTR variant A/G snv 0.59 0.030 1.000 3 2009 2019
dbSNP: rs1048709
rs1048709
CFB ; CYP21A2
8 0.776 0.320 6 31947158 synonymous variant A/G snv 0.82 0.85 0.020 0.500 2 2009 2019
dbSNP: rs12614
rs12614
CFB ; CYP21A2
5 0.851 0.160 6 31946402 missense variant C/G;T snv 4.1E-06; 0.12 0.020 0.500 2 2014 2019
dbSNP: rs117314762
rs117314762
CFB ; CYP21A2
1 1.000 0.040 6 31946529 missense variant G/A snv 7.7E-04 2.0E-04 0.010 1.000 1 2016 2016
dbSNP: rs4151659
rs4151659
CFB ; CYP21A2
3 0.925 0.160 6 31950687 missense variant A/G snv 1.1E-02 1.8E-02 0.010 1.000 1 2009 2009
dbSNP: rs4151672
rs4151672
CFB ; CYP21A2 ; NELFE
1 1.000 0.040 6 31952053 3 prime UTR variant C/G;T snv 4.1E-06; 3.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs512559
rs512559
CFB ; CYP21A2
1 1.000 0.040 6 31948285 non coding transcript exon variant A/G snv 5.2E-02 0.010 1.000 1 2013 2013
dbSNP: rs760070
rs760070
CFB ; CYP21A2 ; NELFE
3 0.882 0.280 6 31952179 3 prime UTR variant T/C snv 0.12 0.010 1.000 1 2013 2013