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rs35515200

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs35515200(C;G)
Make rs35515200(G;G)
ReferenceGRCh38 38.1/142
Chromosome5
Position177405165
GeneF12, SLC34A1
is asnp
is mentioned by
dbSNPrs35515200
dbSNP (old)rs35515200
ClinGenrs35515200
ebirs35515200
HLIrs35515200
Exacrs35515200
Varsomers35515200
Maprs35515200
PheGenIrs35515200
Biobankrs35515200
1000 genomesrs35515200
hgdprs35515200
ensemblrs35515200
gopubmedrs35515200
geneviewrs35515200
scholarrs35515200
googlers35515200
pharmgkbrs35515200
gwascentralrs35515200
openSNPrs35515200
23andMers35515200
23andMe allrs35515200
SNP Nexus

SNPshotrs35515200
SNPdbers35515200
MSV3drs35515200
GWAS Ctlgrs35515200
GMAF0.002755
Max Magnitude0
Venter snp
Source plos
Gene F12
allele C
frequency
sift TOLERATED
HuRef 1103654303190
Disease Association Defects in F12 do not cause any clinical symptoms. The sole effect is that whole-blood clotting time is prolonged.


Neighborrs17876030
Distance340


ClinVar
Risk rs35515200(G;G)
Alt rs35515200(G;G)
Reference Rs35515200(C;C)
Significance Probable-non-pathogenic
Disease Reduced factor XII activity Hereditary Angioedema
Variation info
Gene F12
CLNDBN Reduced factor XII activity Hereditary Angioedema
Reversed 1
HGVS NC_000005.9:g.176832166G>C
CLNSRC
CLNACC RCV000322122.1, RCV000355853.1,