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rs387906509

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906509(A;A)
Make rs387906509(A;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position40979743
GeneC7
is asnp
is mentioned by
dbSNPrs387906509
dbSNP (classic)rs387906509
ClinGenrs387906509
ebirs387906509
HLIrs387906509
Exacrs387906509
Gnomadrs387906509
Varsomers387906509
LitVarrs387906509
Maprs387906509
PheGenIrs387906509
Biobankrs387906509
1000 genomesrs387906509
hgdprs387906509
ensemblrs387906509
geneviewrs387906509
scholarrs387906509
googlers387906509
pharmgkbrs387906509
gwascentralrs387906509
openSNPrs387906509
23andMers387906509
SNPshotrs387906509
SNPdbers387906509
MSV3drs387906509
GWAS Ctlgrs387906509
Max Magnitude0
ClinVar
Risk rs387906509(A;A)
Alt rs387906509(A;A)
Reference Rs387906509(T;T)
Significance Pathogenic
Disease Complement component 7 deficiency
Variation info
Gene C7
CLNDBN Complement component 7 deficiency
Reversed 0
HGVS NC_000005.9:g.40979845T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012885.24,