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rs5907

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs5907(A;A)
Make rs5907(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position20779935
GenePI4KA, SERPIND1
is asnp
is mentioned by
dbSNPrs5907
ebirs5907
HLIrs5907
Exacrs5907
Varsomers5907
Maprs5907
PheGenIrs5907
hapmaprs5907
1000 genomesrs5907
hgdprs5907
ensemblrs5907
gopubmedrs5907
geneviewrs5907
scholarrs5907
googlers5907
pharmgkbrs5907
gwascentralrs5907
openSNPrs5907
23andMers5907
23andMe allrs5907
SNP Nexus

SNPshotrs5907
SNPdbers5907
MSV3drs5907
GWAS Ctlgrs5907
GMAF0.001837
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM142360
DescHEPARIN COFACTOR II DEFICIENCY
Variant0001
Relatedalso


ClinVar
Risk rs5907(A;A)
Alt rs5907(A;A)
Reference rs5907(G;G)
Significance Pathogenic
Disease Heparin cofactor II deficiency
Variation info
Gene SERPIND1 PI4KA
CLNDBN Heparin cofactor II deficiency
Reversed 0
HGVS NC_000022.10:g.21134223G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000016092.26,