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rs35953626

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs35953626(C;T)
Make rs35953626(T;T)
ReferenceGRCh38 38.1/142
Chromosome4
Position5753797
GeneEVC
is asnp
is mentioned by
dbSNPrs35953626
ebirs35953626
HLIrs35953626
Exacrs35953626
Varsomers35953626
Maprs35953626
PheGenIrs35953626
hapmaprs35953626
1000 genomesrs35953626
hgdprs35953626
ensemblrs35953626
gopubmedrs35953626
geneviewrs35953626
scholarrs35953626
googlers35953626
pharmgkbrs35953626
gwascentralrs35953626
openSNPrs35953626
23andMers35953626
23andMe allrs35953626
SNP Nexus

SNPshotrs35953626
SNPdbers35953626
MSV3drs35953626
GWAS Ctlgrs35953626
GMAF0.05464
Max Magnitude0
OMIM604831
Desc
Variant0005
Relatedalso
? (C;C) (C;T) (T;T)


ClinVar
Risk rs35953626(T;T)
Alt rs35953626(T;T)
Reference rs35953626(C;C)
Significance Pathogenic
Disease Chondroectodermal dysplasia
Variation info
Gene EVC
CLNDBN Chondroectodermal dysplasia
Reversed 1
HGVS NC_000004.11:g.5755524G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005670.5,



GET Evidence
EVC-R443Q
aa_change Arg443Gln
aa_change_short R443Q
impact benign
qualified_impact Low clinical importance, Likely benign
overall_frequency 0.0791039
summary Probably benign. Implicated in causing Ellis-van Creveld Syndrome in a dominant manner (despite the disease typically being recessive), but the high allele frequency of this variant (7.8% in GET-Evidence data) strongly contradicts any severe pathogenic effect.