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rs2073748

From SNPedia

Orientationminus
Stabilizedminus
Make rs2073748(C;C)
Make rs2073748(C;T)
Make rs2073748(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position19981448
GeneARVCF
is asnp
is mentioned by
dbSNPrs2073748
ebirs2073748
HLIrs2073748
Exacrs2073748
Varsomers2073748
Maprs2073748
PheGenIrs2073748
hapmaprs2073748
1000 genomesrs2073748
hgdprs2073748
ensemblrs2073748
gopubmedrs2073748
geneviewrs2073748
scholarrs2073748
googlers2073748
pharmgkbrs2073748
gwascentralrs2073748
openSNPrs2073748
23andMers2073748
23andMe allrs2073748
SNP Nexus

SNPshotrs2073748
SNPdbers2073748
MSV3drs2073748
GWAS Ctlgrs2073748
GMAF0.3255
Max Magnitude
? (C;C) (C;T) (T;T) 28
Although the table here shows rs2073748(C;C) as being the variant present in 100% of the CEU sample, there are anecdotal reports from the 23andMe community [1] that it is not as rare among Europeans as the study indicates -- several users who responded to the query within a few days after it was posted (out of an unknown number who saw it) reported that they are Caucasians who have other variants.


Venter snp
Source plos
Gene ARVCF
allele A
frequency 1
sift TOLERATED
HuRef 1103691007856
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.



Neighborrs2240717
Distance135


GET Evidence
ARVCF-P220L
aa_change Pro220Leu
aa_change_short P220L
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.341815
summary