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rs387906753

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906753(C;C)
Make rs387906753(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position187235983
GeneMASP1
is asnp
is mentioned by
dbSNPrs387906753
dbSNP (classic)rs387906753
ClinGenrs387906753
ebirs387906753
HLIrs387906753
Exacrs387906753
Gnomadrs387906753
Varsomers387906753
LitVarrs387906753
Maprs387906753
PheGenIrs387906753
Biobankrs387906753
1000 genomesrs387906753
hgdprs387906753
ensemblrs387906753
geneviewrs387906753
scholarrs387906753
googlers387906753
pharmgkbrs387906753
gwascentralrs387906753
openSNPrs387906753
23andMers387906753
SNPshotrs387906753
SNPdbers387906753
MSV3drs387906753
GWAS Ctlgrs387906753
Max Magnitude0
ClinVar
Risk rs387906753(C;C)
Alt rs387906753(C;C)
Reference Rs387906753(T;T)
Significance Pathogenic
Disease Michels syndrome
Variation info
Gene MASP1
CLNDBN Michels syndrome
Reversed 1
HGVS NC_000003.11:g.186953771A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000022978.3,