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rs1383180

From SNPedia

Orientationminus
Stabilizedminus
Make rs1383180(C;C)
Make rs1383180(C;T)
Make rs1383180(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position5783715
GeneEVC
is asnp
is mentioned by
dbSNPrs1383180
ebirs1383180
HLIrs1383180
Exacrs1383180
Varsomers1383180
Maprs1383180
PheGenIrs1383180
hapmaprs1383180
1000 genomesrs1383180
hgdprs1383180
ensemblrs1383180
gopubmedrs1383180
geneviewrs1383180
scholarrs1383180
googlers1383180
pharmgkbrs1383180
gwascentralrs1383180
openSNPrs1383180
23andMers1383180
23andMe allrs1383180
SNP Nexus

SNPshotrs1383180
SNPdbers1383180
MSV3drs1383180
GWAS Ctlgrs1383180
GMAF0.3361
Max Magnitude
? (C;C) (C;T) (T;T) 28

[PMID 19115052] male suicidal behavior rs1383180

Venter snp
Source plos
Gene EVC
allele A
frequency 0.325
sift TOLERATED
HuRef 1103654324185
Disease Association Defects in EVC are the cause of Weyers acrodental dysostosis (WAD) (MIM:193530). WAD is an autosomal dominant disorder characterized by dysplastic nails, postaxial polydactyly, acrofacial dysostosis, short limbs and short stature. The phenotype is milder than Ellis-van Creveld syndrome.



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


GET Evidence
EVC-R576Q
aa_change Arg576Gln
aa_change_short R576Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.308608
summary



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