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rs2522943

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs2522943(C;G)
Make rs2522943(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position74400419
GeneCLIP2
is asnp
is mentioned by
dbSNPrs2522943
ebirs2522943
HLIrs2522943
Exacrs2522943
Varsomers2522943
Maprs2522943
PheGenIrs2522943
hapmaprs2522943
1000 genomesrs2522943
hgdprs2522943
ensemblrs2522943
gopubmedrs2522943
geneviewrs2522943
scholarrs2522943
googlers2522943
pharmgkbrs2522943
gwascentralrs2522943
openSNPrs2522943
23andMers2522943
23andMe allrs2522943
SNP Nexus

SNPshotrs2522943
SNPdbers2522943
MSV3drs2522943
GWAS Ctlgrs2522943
GMAF0.009183
Max Magnitude0
? (C;C) (C;G) (G;G) 28
Venter snp
Source plos
Gene CYLN2
allele C
frequency 0.967
sift TOLERATED
HuRef 1103652613976
Disease Association Haploinsufficiency of CYLN2 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in Williams-Beuren syndrome (WBS) (MIM:194050). WBS is a rare developmental disorder. It is a contiguous gene deletion syndrome involving genes from chromosome band 7q11.23.


GET Evidence
CLIP2-R977P
aa_change Arg977Pro
aa_change_short R977P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.98206
summary