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rs61751507

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61751507(C;T)
Make rs61751507(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position100069757
GeneCPN1
is asnp
is mentioned by
dbSNPrs61751507
dbSNP (classic)rs61751507
ClinGenrs61751507
ebirs61751507
HLIrs61751507
Exacrs61751507
Gnomadrs61751507
Varsomers61751507
LitVarrs61751507
Maprs61751507
PheGenIrs61751507
Biobankrs61751507
1000 genomesrs61751507
hgdprs61751507
ensemblrs61751507
geneviewrs61751507
scholarrs61751507
googlers61751507
pharmgkbrs61751507
gwascentralrs61751507
openSNPrs61751507
23andMers61751507
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 not specified
Variation info
Gene CPN1
CLNDBN Anaphylotoxin inactivator deficiency not specified
Reversed 0
HGVS NC_000010.10:g.101829514C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007002.2, RCV000455837.1,