Table 2. Allele frequencies of ITPKB reported by UCSC.

dbSNP: rs6667260:

A: 44.423% (3664.890/8250); C: 55.577% (4585.110/8250)

Coding annotations by dbSNP:

ITPKB (NM_002221): missense variant S (TCC) → A (GCC)

dbSNP: rs708776:

A: 95.881% (9334.020/9735); C: 3.461% (336.980/9735); G: 0.637% (62/9735); T: 0.021% (2/9756)

Coding annotations by dbSNP:

ITPKB (NM_002221): missense variant P (CCG) → Q (CAG)

dbSNP: rs708775:

C: 71.623% (7217.720/10077.330); T: 28.377% (2859.610/10077.330)

Coding annotations by dbSNP:

ITPKB (NM_002221): synonymous variant A (GCC) → A (GCT)

Bold letter indicates the nucleotide of variance from patient.