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rs387906752

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906752(C;T)
Make rs387906752(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position187236382
GeneMASP1
is asnp
is mentioned by
dbSNPrs387906752
ebirs387906752
HLIrs387906752
Exacrs387906752
Varsomers387906752
Maprs387906752
PheGenIrs387906752
hapmaprs387906752
1000 genomesrs387906752
hgdprs387906752
ensemblrs387906752
gopubmedrs387906752
geneviewrs387906752
scholarrs387906752
googlers387906752
pharmgkbrs387906752
gwascentralrs387906752
openSNPrs387906752
23andMers387906752
23andMe allrs387906752
SNP Nexus

SNPshotrs387906752
SNPdbers387906752
MSV3drs387906752
GWAS Ctlgrs387906752
Max Magnitude0
ClinVar
Risk rs387906752(T;T)
Alt rs387906752(T;T)
Reference rs387906752(C;C)
Significance Pathogenic
Disease Michels syndrome
Variation info
Gene MASP1
CLNDBN Michels syndrome
Reversed 1
HGVS NC_000003.11:g.186954170G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022977.3,