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rs118204454

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118204454(C;C)
Make rs118204454(C;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position177403994
GeneF12, SLC34A1
is asnp
is mentioned by
dbSNPrs118204454
dbSNP (classic)rs118204454
ClinGenrs118204454
ebirs118204454
HLIrs118204454
Exacrs118204454
Gnomadrs118204454
Varsomers118204454
LitVarrs118204454
Maprs118204454
PheGenIrs118204454
Biobankrs118204454
1000 genomesrs118204454
hgdprs118204454
ensemblrs118204454
geneviewrs118204454
scholarrs118204454
googlers118204454
pharmgkbrs118204454
gwascentralrs118204454
openSNPrs118204454
23andMers118204454
SNPshotrs118204454
SNPdbers118204454
MSV3drs118204454
GWAS Ctlgrs118204454
Max Magnitude0
OMIM610619
Desc
Variant0002
Relatedalso
ClinVar
Risk rs118204454(C;C)
Alt rs118204454(C;C)
Reference Rs118204454(G;G)
Significance Pathogenic
Disease FACTOR XII (LOCARNO)
Variation info
Gene F12
CLNDBN FACTOR XII (LOCARNO)
Reversed 1
HGVS NC_000005.9:g.176830995C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001224.3,