Rs118204456

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Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204456(A;A)
Make rs118204456(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position177404231
GeneF12
is asnp
is mentioned by
dbSNPrs118204456
Exacrs118204456
PheGenIrs118204456
nextbiors118204456
hapmaprs118204456
1000 genomesrs118204456
hgdprs118204456
ensemblrs118204456
gopubmedrs118204456
geneviewrs118204456
scholarrs118204456
googlers118204456
pharmgkbrs118204456
gwascentralrs118204456
openSNPrs118204456
23andMers118204456
23andMe allrs118204456
SNP Nexus

SNPshotrs118204456
SNPdbers118204456
MSV3drs118204456
Max Magnitude0
OMIM610619
Desc
Variant0006
Relatedalso
OMIM610619
Desc
Variant0007
Relatedalso
ClinVar
Risk rs118204456(A,G;A,G)
Alt rs118204456(A,G;A,G)
Reference rs118204456(C;C)
Significance Pathogenic
Disease Hereditary angioedema
Variation info
Gene F12
CLNDBN Hereditary angioedema, type III
Reversed 1
HGVS NC_000005.9:g.176831232G>C; NC_000005.9:g.176831232G>T
CLNSRC OMIM Allelic Variant GTR
CLNACC RCV000001229.2, RCV000001228.2,