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rs121908425

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908425(C;T)
Make rs121908425(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position5748226
GeneEVC
is asnp
is mentioned by
dbSNPrs121908425
ebirs121908425
HLIrs121908425
Exacrs121908425
Varsomers121908425
Maprs121908425
PheGenIrs121908425
hapmaprs121908425
1000 genomesrs121908425
hgdprs121908425
ensemblrs121908425
gopubmedrs121908425
geneviewrs121908425
scholarrs121908425
googlers121908425
pharmgkbrs121908425
gwascentralrs121908425
openSNPrs121908425
23andMers121908425
23andMe allrs121908425
SNP Nexus

SNPshotrs121908425
SNPdbers121908425
MSV3drs121908425
GWAS Ctlgrs121908425
Max Magnitude0
OMIM604831
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908425(A,T;A,T)
Alt rs121908425(A,T;A,T)
Reference rs121908425(C;C)
Significance Pathogenic
Disease Chondroectodermal dysplasia
Variation info
Gene EVC
CLNDBN Chondroectodermal dysplasia
Reversed 0
HGVS NC_000004.11:g.5749953C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005668.4,