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rs387906754

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906754(A;A)
Make rs387906754(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position187235874
GeneMASP1
is asnp
is mentioned by
dbSNPrs387906754
dbSNP (classic)rs387906754
ClinGenrs387906754
ebirs387906754
HLIrs387906754
Exacrs387906754
Gnomadrs387906754
Varsomers387906754
LitVarrs387906754
Maprs387906754
PheGenIrs387906754
Biobankrs387906754
1000 genomesrs387906754
hgdprs387906754
ensemblrs387906754
geneviewrs387906754
scholarrs387906754
googlers387906754
pharmgkbrs387906754
gwascentralrs387906754
openSNPrs387906754
23andMers387906754
SNPshotrs387906754
SNPdbers387906754
MSV3drs387906754
GWAS Ctlgrs387906754
Max Magnitude0
ClinVar
Risk rs387906754(A;A)
Alt rs387906754(A;A)
Reference Rs387906754(G;G)
Significance Pathogenic
Disease Michels syndrome
Variation info
Gene MASP1
CLNDBN Michels syndrome
Reversed 1
HGVS NC_000003.11:g.186953662C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022979.3,