Table 3 Description and analysis of SNPs found in CVID patients

BCMA

S81N

tolerated

benign

T/T

T/C

C/C

T/T

T/C

C/C

n.a.

rs373496

0

0,014

0,986

0*

0,050*

0,950*

synonymous (T159)

n.a.

n.a.

T/T

T/C

C/C

T/T

T/C

C/C

no aberrant

rs2017662

0,071

0,029

0,900

0*

0,136*

0,864*

splicing of mRNA

synonymous (T175)

n.a.

n.a.

T/T

T/C

C/C

T/T

T/C

C/C

no aberrant

rs2071336

0,071

0,029

0,900

0*

0,117*

0,883*

splicing of mRNA

K179Q

not tolerated

benign

C/C

C/A

A/A

C/C

C/A

A/A

no segregation, normal expression

0

0,014

0,986

n.k.

n.k.

n.k.

APRIL

G67R

tolerated

benign

A/A

A/G

G/G

A/A

A/G

G/G

n.a.

rs11552708

0

0,190

0,810

0,033*

0,233*

0,733*

N96S

tolerated

benign

G/G

G/A

A/A

G/G

G/A

A/A

n.a.

rs3803800

0,632

0,316

0,053

0,683*

0,183*

0,133*

IL10

3' UTR

n.a.

n.a.

C/C

C/T

T/T

C/C

C/T

T/T

n.a.

rs3024496

0,210

0,368

0,421

0,293*

0,500*

0,207*

IL10RA

synonymous (A153)

n.a.

n.a.

A/A

A/G

G/G

A/A

A/G

G/G

n.a.

rs2256111

0,154

0,346

0,500

0,328*

0,448*

0,224*

I224V

tolerated

benign

A/A

A/G

G/G

A/A

A/G

G/G

n.a.

rs17121493

0,846

0,154

0

0,917*

0,083*

0*

IL21

synonymous (C78)

n.a.

n.a.

G/G

G/A

A/A

G/G

G/A

A/A

n.a.

rs4833837

0,200

0,360

0,440

0,174**

0,522**

0,304**

IL21R

5' UTR rs961914

n.a.

n.a.

T/T

T/C

C/C

Allele T

Allele C

n.a.

0,042

0,167

0,792

0,140***

0,860***

T46M

tolerated

benign

T/T

T/C

C/C

T/T

T/C

C/C

n.a.

0

0,042

0,958

0

0,010

0,990

R275Q

tolerated

benign

A/A

A/G

G/G

A/A

A/G

G/G

n.a.

0

0,042

0,958

0

0,050

0,950