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rs137852924

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852924(C;T)
Make rs137852924(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position5640789
GeneEVC2
is asnp
is mentioned by
dbSNPrs137852924
ebirs137852924
HLIrs137852924
Exacrs137852924
Varsomers137852924
Maprs137852924
PheGenIrs137852924
hapmaprs137852924
1000 genomesrs137852924
hgdprs137852924
ensemblrs137852924
gopubmedrs137852924
geneviewrs137852924
scholarrs137852924
googlers137852924
pharmgkbrs137852924
gwascentralrs137852924
openSNPrs137852924
23andMers137852924
23andMe allrs137852924
SNP Nexus

SNPshotrs137852924
SNPdbers137852924
MSV3drs137852924
GWAS Ctlgrs137852924
Max Magnitude0
OMIM607261
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852924(T;T)
Alt rs137852924(T;T)
Reference rs137852924(C;C)
Significance Pathogenic
Disease Chondroectodermal dysplasia
Variation info
Gene EVC2
CLNDBN Chondroectodermal dysplasia
Reversed 1
HGVS NC_000004.11:g.5642516G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003550.2,