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rs137852926

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852926(G;G)
Make rs137852926(G;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position5681282
GeneEVC2
is asnp
is mentioned by
dbSNPrs137852926
ebirs137852926
HLIrs137852926
Exacrs137852926
Varsomers137852926
Maprs137852926
PheGenIrs137852926
hapmaprs137852926
1000 genomesrs137852926
hgdprs137852926
ensemblrs137852926
gopubmedrs137852926
geneviewrs137852926
scholarrs137852926
googlers137852926
pharmgkbrs137852926
gwascentralrs137852926
openSNPrs137852926
23andMers137852926
23andMe allrs137852926
SNP Nexus

SNPshotrs137852926
SNPdbers137852926
MSV3drs137852926
GWAS Ctlgrs137852926
Max Magnitude0
OMIM607261
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137852926(G;G)
Alt rs137852926(G;G)
Reference rs137852926(T;T)
Significance Pathogenic
Disease Chondroectodermal dysplasia
Variation info
Gene EVC2
CLNDBN Chondroectodermal dysplasia
Reversed 1
HGVS NC_000004.11:g.5683009A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003552.2,