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rs137852925

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852925(C;T)
Make rs137852925(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position5628590
GeneEVC2
is asnp
is mentioned by
dbSNPrs137852925
ebirs137852925
HLIrs137852925
Exacrs137852925
Varsomers137852925
Maprs137852925
PheGenIrs137852925
hapmaprs137852925
1000 genomesrs137852925
hgdprs137852925
ensemblrs137852925
gopubmedrs137852925
geneviewrs137852925
scholarrs137852925
googlers137852925
pharmgkbrs137852925
gwascentralrs137852925
openSNPrs137852925
23andMers137852925
23andMe allrs137852925
SNP Nexus

SNPshotrs137852925
SNPdbers137852925
MSV3drs137852925
GWAS Ctlgrs137852925
Max Magnitude0
OMIM607261
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852925(T;T)
Alt rs137852925(T;T)
Reference rs137852925(C;C)
Significance Pathogenic
Disease Chondroectodermal dysplasia
Variation info
Gene EVC2
CLNDBN Chondroectodermal dysplasia
Reversed 1
HGVS NC_000004.11:g.5630317G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003551.2,