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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
dbSNP (old)rs35953626
ClinGenrs35953626
ebirs35953626
HLIrs35953626
Exacrs35953626
Gnomadrs35953626
Varsomers35953626
Maprs35953626
PheGenIrs35953626
Biobankrs35953626
1000 genomesrs35953626
hgdprs35953626
ensemblrs35953626
gopubmedrs35953626
geneviewrs35953626
scholarrs35953626
googlers35953626
pharmgkbrs35953626
gwascentralrs35953626
openSNPrs35953626
23andMers35953626
23andMe allrs35953626
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 Non-pathogenic
Disease Chondroectodermal dysplasia not specified Ellis-van Creveld Syndrome
Variation info
Gene EVC
CLNDBN Chondroectodermal dysplasia not specified Ellis-van Creveld Syndrome
Reversed 1
HGVS NC_000004.11:g.5755524G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005670.5, RCV000248324.2, RCV000340475.1,