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rs121908424

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908424(C;T)
Make rs121908424(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position5808274
GeneEVC
is asnp
is mentioned by
dbSNPrs121908424
ebirs121908424
HLIrs121908424
Exacrs121908424
Varsomers121908424
Maprs121908424
PheGenIrs121908424
hapmaprs121908424
1000 genomesrs121908424
hgdprs121908424
ensemblrs121908424
gopubmedrs121908424
geneviewrs121908424
scholarrs121908424
googlers121908424
pharmgkbrs121908424
gwascentralrs121908424
openSNPrs121908424
23andMers121908424
23andMe allrs121908424
SNP Nexus

SNPshotrs121908424
SNPdbers121908424
MSV3drs121908424
GWAS Ctlgrs121908424
Max Magnitude0
OMIM604831
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908424(T;T)
Alt rs121908424(T;T)
Reference rs121908424(C;C)
Significance Pathogenic
Disease Chondroectodermal dysplasia
Variation info
Gene EVC
CLNDBN Chondroectodermal dysplasia
Reversed 0
HGVS NC_000004.11:g.5810001C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005667.3,