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rs10282312

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common on affy axiom data
Make rs10282312(G;G)
Make rs10282312(G;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position143320714
GeneCLCN1
is asnp
is mentioned by
dbSNPrs10282312
ebirs10282312
HLIrs10282312
Exacrs10282312
Varsomers10282312
Maprs10282312
PheGenIrs10282312
hapmaprs10282312
1000 genomesrs10282312
hgdprs10282312
ensemblrs10282312
gopubmedrs10282312
geneviewrs10282312
scholarrs10282312
googlers10282312
pharmgkbrs10282312
gwascentralrs10282312
openSNPrs10282312
23andMers10282312
23andMe allrs10282312
SNP Nexus

SNPshotrs10282312
SNPdbers10282312
MSV3drs10282312
GWAS Ctlgrs10282312
GMAF0.009183
Max Magnitude0
? (G;G) (G;T) (T;T) 28
Venter snp
Source plos
Gene CLCN1
allele T
frequency 0.983
sift TOLERATED
HuRef 1103652725404
Disease Association Defects in CLCN1 are the cause of autosomal recessive myotonia congenita (MCR) (MIM:255700); also known as Becker disease.



GET Evidence
CLCN1-G118W
aa_change Gly118Trp
aa_change_short G118W
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.983175
summary