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rs1383180

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1383180(C;T)
Make rs1383180(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position5783715
GeneEVC
is asnp
is mentioned by
dbSNPrs1383180
dbSNP (old)rs1383180
ClinGenrs1383180
ebirs1383180
HLIrs1383180
Exacrs1383180
Gnomadrs1383180
Varsomers1383180
LitVarrs1383180
Maprs1383180
PheGenIrs1383180
Biobankrs1383180
1000 genomesrs1383180
hgdprs1383180
ensemblrs1383180
gopubmedrs1383180
geneviewrs1383180
scholarrs1383180
googlers1383180
pharmgkbrs1383180
gwascentralrs1383180
openSNPrs1383180
23andMers1383180
23andMe allrs1383180
SNPshotrs1383180
SNPdbers1383180
MSV3drs1383180
GWAS Ctlgrs1383180
GMAF0.3361
Max Magnitude0
? (C;C) (C;T) (T;T) 28

[PMID 19115052] male suicidal behavior rs1383180


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



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


ClinVar
Risk rs1383180(A;A) rs1383180(T;T)
Alt rs1383180(A;A) rs1383180(T;T)
Reference Rs1383180(C;C)
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.5785442G>A
CLNSRC
CLNACC RCV000254232.2, RCV000315414.1, RCV000369969.1,