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rs2240717

From SNPedia

Orientationminus
Stabilizedminus
Make rs2240717(C;C)
Make rs2240717(C;T)
Make rs2240717(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position19981583
GeneARVCF
is asnp
is mentioned by
dbSNPrs2240717
ebirs2240717
HLIrs2240717
Exacrs2240717
Varsomers2240717
Maprs2240717
PheGenIrs2240717
hapmaprs2240717
1000 genomesrs2240717
hgdprs2240717
ensemblrs2240717
gopubmedrs2240717
geneviewrs2240717
scholarrs2240717
googlers2240717
pharmgkbrs2240717
gwascentralrs2240717
openSNPrs2240717
23andMers2240717
23andMe allrs2240717
SNP Nexus

SNPshotrs2240717
SNPdbers2240717
MSV3drs2240717
GWAS Ctlgrs2240717
GMAF0.3751
Max Magnitude
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene ARVCF
allele G
frequency 0.325
sift TOLERATED
HuRef 1103691007858
Disease Association Gene deleted in velo-cardio-facial syndrome (VCFS); it is hemizygous in all VCFS patients with interstitial deletions. This hemizygosity may play a role in the etiology of some of the phenotypes associated with VCFS characterized by a wide spectrum phenotypes, including conotruncal heart defects, cleft palate and facial dysmorphology.



Neighborrs2073748
Distance135


GET Evidence
ARVCF-V175A
aa_change Val175Ala
aa_change_short V175A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.406202
summary