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rs137852928

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852928(C;T)
Make rs137852928(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position5584832
GeneEVC2
is asnp
is mentioned by
dbSNPrs137852928
ebirs137852928
HLIrs137852928
Exacrs137852928
Varsomers137852928
Maprs137852928
PheGenIrs137852928
hapmaprs137852928
1000 genomesrs137852928
hgdprs137852928
ensemblrs137852928
gopubmedrs137852928
geneviewrs137852928
scholarrs137852928
googlers137852928
pharmgkbrs137852928
gwascentralrs137852928
openSNPrs137852928
23andMers137852928
23andMe allrs137852928
SNP Nexus

SNPshotrs137852928
SNPdbers137852928
MSV3drs137852928
GWAS Ctlgrs137852928
Max Magnitude0
OMIM607261
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137852928(A,T;A,T)
Alt rs137852928(A,T;A,T)
Reference rs137852928(C;C)
Significance Pathogenic
Disease Chondroectodermal dysplasia
Variation info
Gene EVC2
CLNDBN Chondroectodermal dysplasia
Reversed 1
HGVS NC_000004.11:g.5586559G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003554.4,