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rs2600683

From SNPedia

Orientationminus
Stabilizedminus
Make rs2600683(C;C)
Make rs2600683(C;G)
Make rs2600683(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position174765747
GeneCHRNA1
is asnp
is mentioned by
dbSNPrs2600683
dbSNP (classic)rs2600683
ClinGenrs2600683
ebirs2600683
HLIrs2600683
Exacrs2600683
Gnomadrs2600683
Varsomers2600683
LitVarrs2600683
Maprs2600683
PheGenIrs2600683
Biobankrs2600683
1000 genomesrs2600683
hgdprs2600683
ensemblrs2600683
geneviewrs2600683
scholarrs2600683
googlers2600683
pharmgkbrs2600683
gwascentralrs2600683
openSNPrs2600683
23andMers2600683
SNPshotrs2600683
SNPdbers2600683
MSV3drs2600683
GWAS Ctlgrs2600683
GMAF0.1593
Max Magnitude0
? (C;C) (C;G) (G;G) 28


Rs2600683
PubMed [PMID 17687331]
Affy Probeset SNP_A-1876238
Affy Orientation same
On GW 5.0
Alleles A/B C/G
Ancestral C
Population Caucasian
Allele C
Case Freq. 0.21
Control Freq. 0.11
Odds Ratio Het
Odds Ratio Hom
Odds Ratio All 2.36
Disease Myasthenia gravis, early onset (EOMG)


rs2600683 increases susceptibility to Myasthenia gravis, early onset 2.36 times for carriers of the C allele [PMID 17687331]