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

rs61751507

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common/normal
Make rs61751507(A;A)
Make rs61751507(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position100069757
GeneCPN1
is asnp
is mentioned by
dbSNPrs61751507
ebirs61751507
HLIrs61751507
Exacrs61751507
Varsomers61751507
Maprs61751507
PheGenIrs61751507
hapmaprs61751507
1000 genomesrs61751507
hgdprs61751507
ensemblrs61751507
gopubmedrs61751507
geneviewrs61751507
scholarrs61751507
googlers61751507
pharmgkbrs61751507
gwascentralrs61751507
openSNPrs61751507
23andMers61751507
23andMe allrs61751507
SNP Nexus

SNPshotrs61751507
SNPdbers61751507
MSV3drs61751507
GWAS Ctlgrs61751507
GMAF0.03214
Max Magnitude0
OMIM603103
Desc
Variant0002
Relatedalso


ClinVar
Risk rs61751507(T;T)
Alt rs61751507(T;T)
Reference rs61751507(C;C)
Significance Pathogenic
Disease Anaphylotoxin inactivator deficiency
Variation info
Gene CPN1
CLNDBN Anaphylotoxin inactivator deficiency
Reversed 0
HGVS NC_000010.10:g.101829514C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007002.2,



GET Evidence
CPN1-G178D
aa_change Gly178Asp
aa_change_short G178D
impact pathogenic
qualified_impact Low clinical importance, Uncertain pathogenic
overall_frequency 0.0356014
summary This rare variant (around 1% allele frequency) is hypothesized to cause carboxypeptidase N deficiency in a recessive manner, especially if combined with a more severe variant. However the findings lack statistical sigificance: only a single case study of an affected individual links this variant to causing the disease. There aren’t any follow-up in vitro studies testing whether this variant affects protein function.