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

rs2232775

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs2232775(A;G)
Make rs2232775(G;G)
ReferenceGRCh38 38.1/142
Chromosome19
Position8308268
GeneCD320
is asnp
is mentioned by
dbSNPrs2232775
ebirs2232775
HLIrs2232775
Exacrs2232775
Varsomers2232775
Maprs2232775
PheGenIrs2232775
hapmaprs2232775
1000 genomesrs2232775
hgdprs2232775
ensemblrs2232775
gopubmedrs2232775
geneviewrs2232775
scholarrs2232775
googlers2232775
pharmgkbrs2232775
gwascentralrs2232775
openSNPrs2232775
23andMers2232775
23andMe allrs2232775
SNP Nexus

SNPshotrs2232775
SNPdbers2232775
MSV3drs2232775
GWAS Ctlgrs2232775
GMAF0.1469
Max Magnitude0

[PMID 22116453OA-icon.png] Folate and vitamin B12-related genes and risk for omphalocele

GET Evidence
CD320-Q8R
aa_change Gln8Arg
aa_change_short Q8R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.127301
summary


ClinVar
Risk rs2232775(G;G)
Alt rs2232775(G;G)
Reference rs2232775(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene NDUFA7 CD320
CLNDBN not specified
Reversed 1
HGVS NC_000019.9:g.8373152T>C
CLNSRC ClinVar GeneDx
CLNACC RCV000124166.2,