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rs750841

From SNPedia

Orientationplus
Stabilizedplus
Make rs750841(A;A)
Make rs750841(A;T)
Make rs750841(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position152297246
GeneGABRA3
is asnp
is mentioned by
dbSNPrs750841
ebirs750841
HLIrs750841
Exacrs750841
Varsomers750841
Maprs750841
PheGenIrs750841
hapmaprs750841
1000 genomesrs750841
hgdprs750841
ensemblrs750841
gopubmedrs750841
geneviewrs750841
scholarrs750841
googlers750841
pharmgkbrs750841
gwascentralrs750841
openSNPrs750841
23andMers750841
23andMe allrs750841
SNP Nexus

SNPshotrs750841
SNPdbers750841
MSV3drs750841
GWAS Ctlgrs750841
GMAF0.2346
Max Magnitude
? (A;A) (A;T) (T;T) 28
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).