Have questions? Visit https://www.reddit.com/r/SNPedia

rs12688128

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0
Make rs12688128(A;A)
Make rs12688128(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position104747771
GeneIL1RAPL2
is asnp
is mentioned by
dbSNPrs12688128
ebirs12688128
HLIrs12688128
Exacrs12688128
Varsomers12688128
Maprs12688128
PheGenIrs12688128
hapmaprs12688128
1000 genomesrs12688128
hgdprs12688128
ensemblrs12688128
gopubmedrs12688128
geneviewrs12688128
scholarrs12688128
googlers12688128
pharmgkbrs12688128
gwascentralrs12688128
openSNPrs12688128
23andMers12688128
23andMe allrs12688128
SNP Nexus

SNPshotrs12688128
SNPdbers12688128
MSV3drs12688128
GWAS Ctlgrs12688128
Max Magnitude0
influences the risk of thyrotoxic hypokalaemic periodic paralysis

[PMID 17970773] rs750841 (A > T) in intron 3 of the gamma-aminobutyric acid (GABA) receptor alpha3 subunit (GABRA3) gene possessed the most significant difference in allele frequency (27% in THPP case and 5% in controls, P = 0.007). Actual allele frequencies obtained from genotyping in each individual were very similar to the estimated frequency from the pools (28% in THPP and 2% in controls, and P = 0.0002). Nearby DNA sequences of GABRA3 were sequenced and an additional two SNPs were found (A > C at exon 1 and G > T of rs12688128). Allele A of rs750841 and allele G of rs12688128 in intron 3 were predominantly found in THPP with significant genetic relative risk of 19 (P < 0.0002; 95%CI 2.4-151.6).