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rs121908426

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908426(C;C)
Make rs121908426(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position5745321
GeneEVC
is asnp
is mentioned by
dbSNPrs121908426
ebirs121908426
HLIrs121908426
Exacrs121908426
Varsomers121908426
Maprs121908426
PheGenIrs121908426
hapmaprs121908426
1000 genomesrs121908426
hgdprs121908426
ensemblrs121908426
gopubmedrs121908426
geneviewrs121908426
scholarrs121908426
googlers121908426
pharmgkbrs121908426
gwascentralrs121908426
openSNPrs121908426
23andMers121908426
23andMe allrs121908426
SNP Nexus

SNPshotrs121908426
SNPdbers121908426
MSV3drs121908426
GWAS Ctlgrs121908426
Max Magnitude0
OMIM604831
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908426(C;C)
Alt rs121908426(C;C)
Reference rs121908426(T;T)
Significance Pathogenic
Disease Curry-Hall syndrome Chondroectodermal dysplasia
Variation info
Gene EVC
CLNDBN Curry-Hall syndrome Chondroectodermal dysplasia
Reversed 0
HGVS NC_000004.11:g.5747048T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005671.6, RCV000005672.2,