  
Minor allele (frequency)


dsSNP ID

Location NM_000371.3 (HGVS)

Location

Controls

V30M Carriers

Pvalue^{a}


rs3764478

c.1361247G > T

5'upstream

T (0.09)

T (0.07)
 
rs71383038

c.1361097_1096delCA

5'upstream

CA9 (0.31)

CA9 (0.17)

0.0034

rs72922940

c.1361032A > G

5'upstream

G (0.07)

G (0.05)
 
rs3764477

c.1361021G > A

5'upstream

A (0.00)

A (0.01)
 
rs58616646

c.1361000C > T

5'upstream

T (0.00)

T (0.01)
 
*

c.136697C > T

5'upstream

T (0.03)

T (0.01)
 
rs3794885

c.136607A > T

5'upstream

T (0.32)

T (0.18)

0.0041

*

c.136546G > A

5'upstream

A (0.02)

A (0.03)
 
rs723744

c.70383G > T

intronic

T (0.31)

T (0.19)
 
rs1800458

c.76G > A, p.G26R

exon 2

A (0.04)

A (0.02)
 
rs28933979

c.148G > T, p.V50 M (V30M)

exon 2

G (0.00)

G (0.51)
 
rs1080093

c.200+691C > G

intronic

G (0.31)

G (0.20)
 
rs1080094

c.200+806A > G

intronic

G (0.30)

G (0.20)
 
rs3764476

c.336+1242C > A

intronic

A (0.30)

A (0.20)
 
ENSSNP11324634

c.336+1432A > G

intronic

G (0.00)

G (0.01)
 
rs7235277

c.336+1655G > C

intronic

C (0.37)

C (0.18)
 
rs3794884

c.3371560T > G

intronic

G (0.31)

G (0.19)
 
rs36204272

c.33718G > C

intronic

C (0.00)

C (0.01)
 
rs62093482

c.*261C > T

3'UTR

T (0.04)

C (0.48)

< 0.0001^{b}

 SNPs with significant differences in allele frequencies between V30M carriers and controls are shown in bold. Previously not reported polymorphisms are marked with a star (*). ^{a}
Pvalue ≤0.05 were considered statistical significant. Pvalue calculated by Fisher exact probability test. ^{b}
Pvalue significant after Bonferroni correction (Pvalue ≤0.003).
 For sixteen SNPs only the wt allele were detected in the Swedish material, these are not included in the table: rs3794886, rs16962206, rs1551005, rs9304103, rs7231173, rs17740912, rs58272364, rs13381331, rs1791225, rs10707844, rs1667250, rs1791226, rs1791227, rs1667251, rs1061978, rs11541783.