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rs1045644

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1045644(C;G)
Make rs1045644(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position30885890
GeneCOCH, RPS4XP13
is asnp
is mentioned by
dbSNPrs1045644
ebirs1045644
HLIrs1045644
Exacrs1045644
Varsomers1045644
Maprs1045644
PheGenIrs1045644
hapmaprs1045644
1000 genomesrs1045644
hgdprs1045644
ensemblrs1045644
gopubmedrs1045644
geneviewrs1045644
scholarrs1045644
googlers1045644
pharmgkbrs1045644
gwascentralrs1045644
openSNPrs1045644
23andMers1045644
23andMe allrs1045644
SNP Nexus

SNPshotrs1045644
SNPdbers1045644
MSV3drs1045644
GWAS Ctlgrs1045644
GMAF0.4665
Max Magnitude0
? (C;C) (C;G) (G;G) 28
Venter snp
Source plos
Gene COCH
allele G
frequency 0.417
sift TOLERATED
HuRef 1103649023186
Disease Association Defects in COCH may contribute to Meniere disease (MIM:156000). Meniere disease is an autosomal dominant disorder characterized by hearing loss associated with episodic vertigo. Antibodies against COCH are found in 10% of Meniere patients.



[PMID 18520591OA-icon.png] Sequence variants in host cell factor C1 are associated with Meniere's disease.


GET Evidence
COCH-T352S
aa_change Thr352Ser
aa_change_short T352S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.509295
summary



ClinVar
Risk rs1045644(G;G)
Alt rs1045644(G;G)
Reference rs1045644(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene COCH LOC100506071
CLNDBN not specified
Reversed 0
HGVS NC_000014.8:g.31355096C>G
CLNSRC
CLNACC RCV000221727.1,