Have questions? Visit https://www.reddit.com/r/SNPedia

rs2302075

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(G;G) 0 common in clinvar
Make rs2302075(G;T)
Make rs2302075(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position5753815
GeneEVC
is asnp
is mentioned by
dbSNPrs2302075
dbSNP (classic)rs2302075
ClinGenrs2302075
ebirs2302075
HLIrs2302075
Exacrs2302075
Gnomadrs2302075
Varsomers2302075
LitVarrs2302075
Maprs2302075
PheGenIrs2302075
Biobankrs2302075
1000 genomesrs2302075
hgdprs2302075
ensemblrs2302075
geneviewrs2302075
scholarrs2302075
googlers2302075
pharmgkbrs2302075
gwascentralrs2302075
openSNPrs2302075
23andMers2302075
SNPshotrs2302075
SNPdbers2302075
MSV3drs2302075
GWAS Ctlgrs2302075
GMAF0.1662
Max Magnitude0
? (G;G) (G;T) (T;T) 28




[PMID 18947413OA-icon.png] Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.



ClinVar
Risk Rs2302075(A;A) rs2302075(T;T)
Alt Rs2302075(A;A) rs2302075(T;T)
Reference Rs2302075(G;G)
Significance Non-pathogenic
Disease not specified Ellis-van Creveld Syndrome Curry-Hall syndrome
Variation info
Gene EVC
CLNDBN not specified Ellis-van Creveld Syndrome Curry-Hall syndrome
Reversed 1
HGVS NC_000004.11:g.5755542C>A
CLNSRC UniProtKB (protein)
CLNACC RCV000153204.5, RCV000360127.1, RCV000390155.1,



[PMID 26251756OA-icon.png] EVC gene polymorphisms and risks of isolated hypospadias - a preliminary study