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rs137852927

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852927(C;T)
Make rs137852927(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position5576247
GeneEVC2
is asnp
is mentioned by
dbSNPrs137852927
ebirs137852927
HLIrs137852927
Exacrs137852927
Varsomers137852927
Maprs137852927
PheGenIrs137852927
hapmaprs137852927
1000 genomesrs137852927
hgdprs137852927
ensemblrs137852927
gopubmedrs137852927
geneviewrs137852927
scholarrs137852927
googlers137852927
pharmgkbrs137852927
gwascentralrs137852927
openSNPrs137852927
23andMers137852927
23andMe allrs137852927
SNP Nexus

SNPshotrs137852927
SNPdbers137852927
MSV3drs137852927
GWAS Ctlgrs137852927
Max Magnitude0
OMIM607261
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852927(T;T)
Alt rs137852927(T;T)
Reference rs137852927(C;C)
Significance Pathogenic
Disease Chondroectodermal dysplasia
Variation info
Gene EVC2
CLNDBN Chondroectodermal dysplasia
Reversed 1
HGVS NC_000004.11:g.5577974G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003553.4,