Have questions? Visit https://www.reddit.com/r/SNPedia

rs57965306

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs57965306(C;C)
Make rs57965306(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position219421365
GeneDES
is asnp
is mentioned by
dbSNPrs57965306
ebirs57965306
HLIrs57965306
Exacrs57965306
Varsomers57965306
Maprs57965306
PheGenIrs57965306
hapmaprs57965306
1000 genomesrs57965306
hgdprs57965306
ensemblrs57965306
gopubmedrs57965306
geneviewrs57965306
scholarrs57965306
googlers57965306
pharmgkbrs57965306
gwascentralrs57965306
openSNPrs57965306
23andMers57965306
23andMe allrs57965306
SNP Nexus

SNPshotrs57965306
SNPdbers57965306
MSV3drs57965306
GWAS Ctlgrs57965306
Max Magnitude0
OMIM125660
Desc
Variant0016
Relatedalso


ClinVar
Risk rs57965306(A,C;A,C)
Alt rs57965306(A,C;A,C)
Reference rs57965306(G;G)
Significance Pathogenic
Disease Scapuloperoneal syndrome not provided
Variation info
Gene DES
CLNDBN Scapuloperoneal syndrome, neurogenic, Kaeser type not provided
Reversed 0
HGVS NC_000002.11:g.220286087G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018329.23, RCV000056767.1,