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rs146538906

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs146538906(A;A)
Make rs146538906(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position5618531
GeneEVC2
is asnp
is mentioned by
dbSNPrs146538906
ebirs146538906
HLIrs146538906
Exacrs146538906
Varsomers146538906
Maprs146538906
PheGenIrs146538906
hapmaprs146538906
1000 genomesrs146538906
hgdprs146538906
ensemblrs146538906
gopubmedrs146538906
geneviewrs146538906
scholarrs146538906
googlers146538906
pharmgkbrs146538906
gwascentralrs146538906
openSNPrs146538906
23andMers146538906
23andMe allrs146538906
SNP Nexus

SNPshotrs146538906
SNPdbers146538906
MSV3drs146538906
GWAS Ctlgrs146538906
Max Magnitude0
ClinVar
Risk rs146538906(A;A)
Alt rs146538906(A;A)
Reference rs146538906(G;G)
Significance Pathogenic
Disease Chondroectodermal dysplasia
Variation info
Gene EVC2
CLNDBN Chondroectodermal dysplasia
Reversed 0
HGVS NC_000004.11:g.5620258G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023642.4,